Variant report

Variant	esv1842177
Chromosome Location	chr2:10587869-10595578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1187)
CpG islands
(count:671)
Chromatin interactive
region (count:43)
LncRNA
region (count:49)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1187 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:10588802-10589018	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:10588104-10588185	K562	blood:	n/a	n/a
3	ARID3A	chr2:10588545-10588559	K562	blood:	n/a	n/a
4	ARID3A	chr2:10592615-10592748	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:10589822-10590468	HepG2	liver:	n/a	n/a
6	ATF2	chr2:10588724-10589212	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr2:10588737-10589160	GM12878	blood:	n/a	n/a
8	ATF3	chr2:10588723-10589046	K562	blood:	n/a	n/a
9	ATF3	chr2:10587944-10588307	HepG2	liver:	n/a	chr2:10587963-10587972
10	ATF3	chr2:10590093-10590457	HepG2	liver:	n/a	n/a
11	ATF3	chr2:10592266-10592851	A549	lung:	n/a	n/a
12	BACH1	chr2:10588407-10589117	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:10588358-10588681	K562	blood:	n/a	n/a
14	BCL3	chr2:10587992-10588612	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
15	BCL3	chr2:10592239-10592882	A549	lung:	n/a	n/a
16	BCLAF1	chr2:10587426-10588480	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
17	BCLAF1	chr2:10588742-10589164	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:10587981-10588510	A549	lung:	n/a	n/a
19	BHLHE40	chr2:10587766-10589275	K562	blood:	n/a	n/a
20	BHLHE40	chr2:10587939-10589085	HepG2	liver:	n/a	n/a
21	BHLHE40	chr2:10589932-10590522	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:10587527-10589296	GM12878	blood:	n/a	n/a
23	BRCA1	chr2:10588054-10588211	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr2:10588827-10589018	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr2:10590159-10590409	HepG2	liver:	n/a	n/a
26	BRCA1	chr2:10589823-10590444	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr2:10588839-10589039	HepG2	liver:	n/a	n/a
28	BRCA1	chr2:10588200-10588397	GM12878	blood:	n/a	n/a
29	BRCA1	chr2:10588831-10589019	GM12878	blood:	n/a	n/a
30	BRCA1	chr2:10592380-10592739	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr2:10588718-10589067	K562	blood:	n/a	n/a
32	CBX3	chr2:10588746-10589370	K562	blood:	n/a	n/a
33	CCNT2	chr2:10587645-10589227	K562	blood:	n/a	chr2:10588665-10588674
34	CEBPB	chr2:10590166-10590844	H1-hESC	embryonic stem cell:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
35	CEBPB	chr2:10588754-10589093	K562	blood:	n/a	n/a
36	CEBPB	chr2:10592327-10592869	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr2:10591689-10591910	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:10592241-10592824	HCT-116	colon:	n/a	n/a
39	CEBPB	chr2:10591678-10591854	A549	lung:	n/a	n/a
40	CEBPB	chr2:10591583-10591829	K562	blood:	n/a	n/a
41	CEBPB	chr2:10590106-10590449	K562	blood:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
42	CEBPB	chr2:10587812-10589049	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr2:10590604-10590840	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:10590099-10590439	IMR90	lung:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
45	CEBPB	chr2:10592320-10592877	A549	lung:	n/a	n/a
46	CEBPB	chr2:10591716-10591897	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr2:10590086-10590818	A549	lung:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
48	CEBPB	chr2:10590028-10590897	HepG2	liver:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
49	CEBPB	chr2:10590040-10590484	A549	lung:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
50	CEBPB	chr2:10590111-10590412	HepG2	liver:	n/a	chr2:10590269-10590280 chr2:10590268-10590281

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10588471-10588521	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:10588232-10588282	HCPEpiC	choroid plexus:	n/a
3	chr2:10588232-10588282	AG10803	skin:	n/a
4	chr2:10589054-10589104	IMR90	lung:	fetal
5	chr2:10588434-10588484	Jurkat	blood:	n/a
6	chr2:10588646-10588696	A549	lung:	n/a
7	chr2:10588434-10588484	K562	blood:	n/a
8	chr2:10588468-10588518	AG04450	lung:	fetal
9	chr2:10588468-10588518	GM12878	blood:	n/a
10	chr2:10588468-10588518	HCT-116	colon:	n/a
11	chr2:10588838-10588888	LNCaP	prostate:	n/a
12	chr2:10588068-10588118	ProgFib	skin:	n/a
13	chr2:10588434-10588484	HL-60	blood:	n/a
14	chr2:10588646-10588696	Caco-2	colon:	n/a
15	chr2:10592414-10592464	NHBE	bronchial:	n/a
16	chr2:10588434-10588484	GM12891	blood:	n/a
17	chr2:10588471-10588521	IMR90	lung:	fetal
18	chr2:10588468-10588518	HMEC	breast:	n/a
19	chr2:10588646-10588696	HIPEpiC	eye:	n/a
20	chr2:10588838-10588888	PrEC	prostate:	n/a
21	chr2:10588468-10588518	T-47D	breast:	n/a
22	chr2:10589242-10589292	LNCaP	prostate:	n/a
23	chr2:10588232-10588282	Hepatocyte	liver:	n/a
24	chr2:10588838-10588888	NHDF-neo	bronchial:	n/a
25	chr2:10588434-10588484	PANC-1	pancreas:	n/a
26	chr2:10588838-10588888	HEK293	kidney:	embryo
27	chr2:10588468-10588518	Caco-2	colon:	n/a
28	chr2:10588838-10588888	NT2-D1	testis:	n/a
29	chr2:10588232-10588282	HEK293	kidney:	embryo
30	chr2:10589054-10589104	HUVEC	blood vessel:	n/a
31	chr2:10589242-10589292	HCM	heart:	n/a
32	chr2:10588471-10588521	NH-A	brain:	n/a
33	chr2:10588434-10588484	HIPEpiC	eye:	n/a
34	chr2:10588434-10588484	HAEpiC	amniotic membrane:	n/a
35	chr2:10588493-10588543	SKMC	muscle:	n/a
36	chr2:10592414-10592464	PANC-1	pancreas:	n/a
37	chr2:10588646-10588696	ovcar-3	ovarian:	n/a
38	chr2:10589054-10589104	Jurkat	blood:	n/a
39	chr2:10592414-10592464	HepG2	liver:	n/a
40	chr2:10588471-10588521	HEEpiC	esophagus:	n/a
41	chr2:10588232-10588282	GM12892	blood:	n/a
42	chr2:10592414-10592464	RPTEC	kidney:	n/a
43	chr2:10589054-10589104	PrEC	prostate:	n/a
44	chr2:10589242-10589292	SAEC	small airway:	n/a
45	chr2:10588493-10588543	RPTEC	kidney:	n/a
46	chr2:10592414-10592464	A549	lung:	n/a
47	chr2:10592414-10592464	AG04450	lung:	fetal
48	chr2:10588493-10588543	NHDF-neo	bronchial:	n/a
49	chr2:10588471-10588521	GM12878	blood:	n/a
50	chr2:10588646-10588696	HEEpiC	esophagus:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10587002..10587961-chr9:130548122..130548787,2	Hela-S3	cervix:
2	chr2:10546025..10548259-chr2:10592640..10594576,2	MCF-7	breast:
3	chr2:10594316..10596675-chr2:10601080..10603064,2	K562	blood:
4	chr1:204463219..204463852-chr2:10587588..10588349,2	Hela-S3	cervix:
5	chr2:9982517..9985169-chr2:10586715..10588876,2	K562	blood:
6	chr1:11866723..11867645-chr2:10588785..10589744,2	Hela-S3	cervix:
7	chr2:10593514..10595515-chr2:10610496..10612872,2	K562	blood:
8	chr12:53400061..53400730-chr2:10588280..10589184,2	Hela-S3	cervix:
9	chr2:10588007..10588995-chr20:62587586..62588155,2	Hela-S3	cervix:
10	chr2:10183697..10185477-chr2:10588092..10590281,2	K562	blood:
11	chr2:10588714..10590244-chr2:10595473..10597042,2	MCF-7	breast:
12	chr2:10259710..10265084-chr2:10586364..10590442,7	MCF-7	breast:
13	chr19:39897578..39898321-chr2:10587983..10588853,2	Hela-S3	cervix:
14	chr2:10260223..10262864-chr2:10590912..10592995,2	K562	blood:
15	chr17:56708807..56709356-chr2:10588054..10588762,2	Hela-S3	cervix:
16	chr2:10394552..10396984-chr2:10589964..10592378,2	K562	blood:
17	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
18	chr18:32072933..32074749-chr2:10587681..10589883,2	MCF-7	breast:
19	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
20	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
21	chr2:10588336..10588842-chr5:34007597..34008142,2	Hela-S3	cervix:
22	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
23	chr11:125439070..125439799-chr2:10588616..10589170,2	HCT-116	colon:
24	chr2:10586529..10589550-chr2:10592115..10595368,3	MCF-7	breast:
25	chr2:10592821..10595516-chr2:10596638..10600708,3	MCF-7	breast:
26	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
27	chr2:10493099..10495765-chr2:10590269..10592388,2	MCF-7	breast:
28	chr2:10265245..10266788-chr2:10587089..10589177,2	K562	blood:
29	chr14:94547166..94547694-chr2:10588672..10589265,2	HCT-116	colon:
30	chr2:10595054..10599667-chr2:10601551..10605339,4	MCF-7	breast:
31	chr2:10258968..10261511-chr2:10592370..10593995,2	MCF-7	breast:
32	chr2:10587837..10588679-chr9:136214618..136215524,2	Hela-S3	cervix:
33	chr2:10191630..10196148-chr2:10586386..10589794,5	K562	blood:
34	chr11:77184882..77185407-chr2:10587988..10588765,2	HCT-116	colon:
35	chr2:10586529..10589550-chr2:10592115..10595368,3	MCF-7	breast:
36	chr1:85725140..85725768-chr2:10588151..10588652,2	MCF-7	breast:
37	chr2:10594206..10596318-chr2:10596724..10599167,2	K562	blood:
38	chr2:10259560..10262841-chr2:10591002..10595402,4	K562	blood:
39	chr2:10589361..10589892-chr3:50336432..50336956,2	Hela-S3	cervix:
40	chr1:27481139..27481769-chr2:10588437..10589315,2	NB4	blood:
41	chr2:10580061..10581971-chr2:10592893..10594912,2	MCF-7	breast:
42	chr2:10420712..10423243-chr2:10586890..10589076,2	K562	blood:
43	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:

(count:49 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-1	chr2:10589240-10589307	XLOC_001342
2	lnc-HPCAL1-1	chr2:10593995-10594184	ENSG00000217258.2
3	lnc-HPCAL1-1	chr2:10590299-10590407	XLOC_001342
4	lnc-HPCAL1-1	chr2:10588861-10590831	NONHSAT069104
5	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
6	lnc-HPCAL1-1	chr2:10589695-10589997	NONHSAT069111
7	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
8	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
9	lnc-HPCAL1-1	chr2:10590179-10590407	XLOC_001342
10	lnc-HPCAL1-1	chr2:10590562-10590920	ENSG00000257135
11	lnc-HPCAL1-1	chr2:10595549-10597076	XLOC_001342
12	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
13	lnc-HPCAL1-1	chr2:10590264-10590918	NONHSAT069114
14	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
15	lnc-HPCAL1-1	chr2:10589870-10590407	XLOC_001342
16	lnc-HPCAL1-1	chr2:10592407-10592413	XLOC_001342
17	lnc-HPCAL1-1	chr2:10595549-10597698	XLOC_001342
18	lnc-HPCAL1-1	chr2:10594139-10594184	XLOC_001342
19	lnc-HPCAL1-1	chr2:10589854-10589997	ENSG00000257135
20	lnc-HPCAL1-1	chr2:10590179-10590407	ENSG00000257135
21	lnc-HPCAL1-1	chr2:10594139-10594185	XLOC_001342
22	lnc-HPCAL1-1	chr2:10593995-10594318	NONHSAT069111
23	lnc-HPCAL1-1	chr2:10595549-10597755	XLOC_001342
24	lnc-HPCAL1-1	chr2:10589731-10590781	XLOC_001342
25	lnc-HPCAL1-1	chr2:10595549-10595678	ENSG00000217258.2
26	lnc-HPCAL1-1	chr2:10592445-10592595	ENSG00000217258.2
27	lnc-HPCAL1-1	chr2:10594139-10594184	XLOC_001342
28	lnc-HPCAL1-1	chr2:10592385-10592595	XLOC_001342
29	lnc-HPCAL1-1	chr2:10589581-10590407	XLOC_001342
30	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
31	lnc-HPCAL1-1	chr2:10592385-10592595	XLOC_001342
32	lnc-HPCAL1-1	chr2:10592407-10592595	NONHSAT069111
33	lnc-HPCAL1-1	chr2:10594139-10594184	XLOC_001342
34	lnc-HPCAL1-1	chr2:10593995-10594043	XLOC_001342
35	lnc-HPCAL1-1	chr2:10594139-10594185	XLOC_001342
36	lnc-HPCAL1-1	chr2:10590179-10590407	NONHSAT069111
37	lnc-HPCAL1-1	chr2:10593995-10594184	XLOC_001342
38	lnc-ODC1-1	chr2:10594148-10594565	l_1774_chr2:10594147-10599614_kidney
39	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
40	lnc-HPCAL1-1	chr2:10595549-10597076	XLOC_001342
41	lnc-HPCAL1-1	chr2:10589333-10590809	NONHSAT069109
42	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
43	lnc-HPCAL1-1	chr2:10595007-10595215	XLOC_001342
44	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
45	lnc-HPCAL1-1	chr2:10595372-10595394	ENSG00000217258.2
46	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
47	lnc-HPCAL1-1	chr2:10595549-10597755	XLOC_001342
48	lnc-HPCAL1-1	chr2:10590299-10590407	XLOC_001342
49	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342

No data

Variant related genes	Relation type
ODC1	TF binding region
SNORA80B	TF binding region
ENSG00000257135	TF binding region
ENSG00000217258	TF binding region
ODC1	CpG island
SNORA80B	CpG island
ENSG00000257135	CpG island
ENSG00000217258	CpG island
ENSG00000257135	chromatin interactions
ENSG00000148297	chromatin interactions
ENSG00000133056	chromatin interactions
ENSG00000162642	chromatin interactions
ENSG00000136807	chromatin interactions
ENSG00000090020	chromatin interactions
ENSG00000134769	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000217258	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000242110	chromatin interactions
ENSG00000115750	chromatin interactions
ENSG00000165948	chromatin interactions
ENSG00000149547	chromatin interactions
ENSG00000115761	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000271787	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000177000	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000089737	chromatin interactions
ENSG00000243477	chromatin interactions
ENSG00000149269	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000115756	chromatin interactions
ENSG00000198276	chromatin interactions
ENSG00000264030	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000148303	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000063046	chromatin interactions
PDE4D	miRNA target sites
PSIP1	miRNA target sites
PRKX	miRNA target sites
CTGF	miRNA target sites
EIF2C1	miRNA target sites
AP1S3	miRNA target sites
CHPT1	miRNA target sites
AP2A1	miRNA target sites
DICER1	miRNA target sites
HUWE1	miRNA target sites
SRPK1	miRNA target sites

Extended variants
information (count: 313 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2430422	chr2:10587869-10587870	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374816611	chr2:10587895-10587896	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs532875798	chr2:10587897-10587898	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs34608521	chr2:10587949-10587950	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs558481132	chr2:10587970-10587971	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs545133914	chr2:10587999-10588000	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs146435265	chr2:10588031-10588032	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs115030661	chr2:10588045-10588046	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs538382777	chr2:10588051-10588052	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs554745040	chr2:10588055-10588056	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
11	rs548782636	chr2:10588087-10588088	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs567195721	chr2:10588109-10588110	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
13	rs2302615	chr2:10588138-10588139	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs28362374	chr2:10588179-10588180	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
15	rs2302616	chr2:10588191-10588192	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34562944	chr2:10588198-10588199	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
17	rs369899055	chr2:10588218-10588219	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
18	rs538755970	chr2:10588392-10588393	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
19	rs28362372	chr2:10588422-10588423	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs551085591	chr2:10588426-10588427	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs569267026	chr2:10588467-10588468	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
22	rs28742580	chr2:10588552-10588553	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs3134584	chr2:10588603-10588604	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
24	rs35284817	chr2:10588799-10588800	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
25	rs555201985	chr2:10588811-10588812	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
26	rs573536275	chr2:10588813-10588814	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
27	rs189082098	chr2:10588844-10588845	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs552999705	chr2:10588847-10588848	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs370803637	chr2:10588889-10588890	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
30	rs112724826	chr2:10588890-10588891	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
31	rs577594365	chr2:10588918-10588919	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
32	rs544763560	chr2:10588931-10588932	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
33	rs563363607	chr2:10588985-10588986	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
34	rs575266021	chr2:10588991-10588992	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
35	rs542367288	chr2:10588992-10588993	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
36	rs114535270	chr2:10589009-10589010	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
37	rs35725745	chr2:10589023-10589024	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
38	rs528362979	chr2:10589055-10589056	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
39	rs139119859	chr2:10589057-10589058	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
40	rs546539315	chr2:10589103-10589104	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
41	rs565116963	chr2:10589124-10589125	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
42	rs532500265	chr2:10589149-10589150	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
43	rs386643120	chr2:10589157-10589158	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
44	rs553326588	chr2:10589166-10589167	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
45	rs573130320	chr2:10589200-10589201	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
46	rs569286008	chr2:10589254-10589255	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
47	rs182525739	chr2:10589275-10589276	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
48	rs141494354	chr2:10589284-10589285	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
49	rs150453219	chr2:10589335-10589336	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
50	rs530424441	chr2:10589395-10589396	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10585200-10588000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr2:10585600-10588000	Active TSS	Fetal Kidney	kidney
3	chr2:10585600-10589000	Active TSS	GM12878-XiMat	blood
4	chr2:10586000-10589600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:10586200-10588200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:10586200-10588800	Active TSS	Fetal Muscle Trunk	muscle
7	chr2:10586200-10589000	Active TSS	HSMM	muscle
8	chr2:10586200-10589000	Active TSS	HSMMtube	muscle
9	chr2:10586200-10589800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:10586400-10588800	Active TSS	Colonic Mucosa	Colon
11	chr2:10586400-10589000	Active TSS	Hela-S3	cervix
12	chr2:10586600-10588200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr2:10586600-10589000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:10586600-10589000	Active TSS	NHLF	lung
15	chr2:10586600-10589400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:10586600-10589400	Active TSS	Psoas Muscle	Psoas
17	chr2:10586600-10589800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:10586800-10588000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr2:10586800-10588000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:10586800-10588200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr2:10586800-10589400	Active TSS	Fetal Brain Female	brain
22	chr2:10586800-10589600	Active TSS	Lung	lung
23	chr2:10587000-10588000	Active TSS	Fetal Lung	lung
24	chr2:10587000-10588800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:10587000-10589000	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr2:10587000-10589000	Active TSS	A549	lung
27	chr2:10587000-10589200	Active TSS	Brain Anterior Caudate	brain
28	chr2:10587000-10589400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:10587200-10588000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:10587200-10588000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr2:10587200-10588000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:10587200-10588000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:10587200-10588200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:10587200-10588200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:10587200-10588400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:10587200-10588800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:10587200-10589000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr2:10587200-10589200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:10587200-10589200	Active TSS	Fetal Intestine Small	intestine
40	chr2:10587200-10589600	Active TSS	Brain Angular Gyrus	brain
41	chr2:10587200-10589600	Active TSS	Small Intestine	intestine
42	chr2:10587200-10589800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:10587400-10588000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr2:10587400-10588000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr2:10587400-10588000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr2:10587400-10588000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr2:10587400-10588000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:10587400-10588000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:10587400-10588000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr2:10587400-10588000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links