Variant report

Variant	nsv873648
Chromosome Location	chr2:10584639-10599493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1393)
CpG islands
(count:854)
Chromatin interactive
region (count:63)
LncRNA
region (count:49)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1393 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:10589822-10590468	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:10588104-10588185	K562	blood:	n/a	n/a
3	ARID3A	chr2:10592615-10592748	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:10588802-10589018	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:10586574-10586586	K562	blood:	n/a	n/a
6	ARID3A	chr2:10588545-10588559	K562	blood:	n/a	n/a
7	ATF2	chr2:10588737-10589160	GM12878	blood:	n/a	n/a
8	ATF2	chr2:10584634-10585027	GM12878	blood:	n/a	n/a
9	ATF2	chr2:10584524-10585039	GM12878	blood:	n/a	n/a
10	ATF2	chr2:10585443-10585956	GM12878	blood:	n/a	n/a
11	ATF2	chr2:10585388-10585812	GM12878	blood:	n/a	n/a
12	ATF2	chr2:10588724-10589212	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr2:10590093-10590457	HepG2	liver:	n/a	n/a
14	ATF3	chr2:10588723-10589046	K562	blood:	n/a	n/a
15	ATF3	chr2:10587944-10588307	HepG2	liver:	n/a	chr2:10587963-10587972
16	ATF3	chr2:10592266-10592851	A549	lung:	n/a	n/a
17	BACH1	chr2:10588407-10589117	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr2:10587483-10587820	K562	blood:	n/a	n/a
19	BACH1	chr2:10588358-10588681	K562	blood:	n/a	n/a
20	BATF	chr2:10585571-10585813	GM12878	blood:	n/a	chr2:10585650-10585658
21	BATF	chr2:10584630-10584994	GM12878	blood:	n/a	n/a
22	BATF	chr2:10584572-10585021	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:10585493-10585875	GM12878	blood:	n/a	chr2:10585728-10585737
24	BCL11A	chr2:10584593-10584966	GM12878	blood:	n/a	n/a
25	BCL3	chr2:10587992-10588612	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
26	BCL3	chr2:10592239-10592882	A549	lung:	n/a	n/a
27	BCLAF1	chr2:10588742-10589164	GM12878	blood:	n/a	n/a
28	BCLAF1	chr2:10587426-10588480	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
29	BCLAF1	chr2:10585328-10585835	GM12878	blood:	n/a	chr2:10585728-10585737
30	BHLHE40	chr2:10587939-10589085	HepG2	liver:	n/a	n/a
31	BHLHE40	chr2:10585451-10585871	GM12878	blood:	n/a	n/a
32	BHLHE40	chr2:10587527-10589296	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:10589932-10590522	HepG2	liver:	n/a	n/a
34	BHLHE40	chr2:10587981-10588510	A549	lung:	n/a	n/a
35	BHLHE40	chr2:10584638-10584928	GM12878	blood:	n/a	n/a
36	BHLHE40	chr2:10587766-10589275	K562	blood:	n/a	n/a
37	BRCA1	chr2:10588831-10589019	GM12878	blood:	n/a	n/a
38	BRCA1	chr2:10587350-10587862	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr2:10590159-10590409	HepG2	liver:	n/a	n/a
40	BRCA1	chr2:10588200-10588397	GM12878	blood:	n/a	n/a
41	BRCA1	chr2:10586856-10587131	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr2:10592380-10592739	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr2:10588839-10589039	HepG2	liver:	n/a	n/a
44	BRCA1	chr2:10587521-10587856	GM12878	blood:	n/a	n/a
45	BRCA1	chr2:10588827-10589018	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr2:10588054-10588211	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr2:10589823-10590444	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr2:10588718-10589067	K562	blood:	n/a	n/a
49	CBX3	chr2:10588746-10589370	K562	blood:	n/a	n/a
50	CCNT2	chr2:10587645-10589227	K562	blood:	n/a	chr2:10588665-10588674

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10588468-10588518	NHBE	bronchial:	n/a
2	chr2:10589054-10589104	IMR90	lung:	fetal
3	chr2:10588493-10588543	PrEC	prostate:	n/a
4	chr2:10588838-10588888	HL-60	blood:	n/a
5	chr2:10588232-10588282	HCPEpiC	choroid plexus:	n/a
6	chr2:10586873-10586923	BE2_C	brain:	n/a
7	chr2:10587052-10587102	HCT-116	colon:	n/a
8	chr2:10587627-10587677	AG04450	lung:	fetal
9	chr2:10587627-10587677	T-47D	breast:	n/a
10	chr2:10589242-10589292	HRCEpiC	kidney:	n/a
11	chr2:10587627-10587677	K562	blood:	n/a
12	chr2:10589054-10589104	RPTEC	kidney:	n/a
13	chr2:10588646-10588696	SK-N-SH	brain:	n/a
14	chr2:10588068-10588118	HCPEpiC	choroid plexus:	n/a
15	chr2:10588468-10588518	SK-N-MC	brain:	n/a
16	chr2:10588646-10588696	MCF-7	breast:	n/a
17	chr2:10588471-10588521	Hepatocyte	liver:	n/a
18	chr2:10588493-10588543	HAEpiC	amniotic membrane:	n/a
19	chr2:10589054-10589104	AG09319	gingival:	n/a
20	chr2:10589242-10589292	HUVEC	blood vessel:	n/a
21	chr2:10588232-10588282	BE2_C	brain:	n/a
22	chr2:10589242-10589292	AG04449	skin:	fetal
23	chr2:10588493-10588543	GM12878	blood:	n/a
24	chr2:10588468-10588518	HEEpiC	esophagus:	n/a
25	chr2:10588232-10588282	GM12891	blood:	n/a
26	chr2:10588434-10588484	HUVEC	blood vessel:	n/a
27	chr2:10588468-10588518	SAEC	small airway:	n/a
28	chr2:10588493-10588543	U87	brain:	n/a
29	chr2:10588471-10588521	NT2-D1	testis:	n/a
30	chr2:10586873-10586923	HepG2	liver:	n/a
31	chr2:10588468-10588518	CMK	blood:	n/a
32	chr2:10586873-10586923	CMK	blood:	n/a
33	chr2:10588068-10588118	AG04450	lung:	fetal
34	chr2:10587627-10587677	MCF10A-Er-Src	breast:	n/a
35	chr2:10588493-10588543	AoSMC	blood vessel:	n/a
36	chr2:10588232-10588282	ECC-1	luminal epithelium:	n/a
37	chr2:10587627-10587677	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:10588471-10588521	Caco-2	colon:	n/a
39	chr2:10589054-10589104	NT2-D1	testis:	n/a
40	chr2:10592414-10592464	H1-hESC	embryonic stem cell:	embryo
41	chr2:10587627-10587677	AG09319	gingival:	n/a
42	chr2:10587627-10587677	NT2-D1	testis:	n/a
43	chr2:10586873-10586923	NT2-D1	testis:	n/a
44	chr2:10588646-10588696	PrEC	prostate:	n/a
45	chr2:10588493-10588543	SK-N-SH_RA	brain:	n/a
46	chr2:10588646-10588696	U87	brain:	n/a
47	chr2:10588468-10588518	Hepatocyte	liver:	n/a
48	chr2:10588838-10588888	MCF10A-Er-Src	breast:	n/a
49	chr2:10588838-10588888	HAEpiC	amniotic membrane:	n/a
50	chr2:10588232-10588282	HEEpiC	esophagus:	n/a

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
2	chr2:10593514..10595515-chr2:10610496..10612872,2	K562	blood:
3	chr2:10583602..10586485-chr2:10613524..10616092,2	K562	blood:
4	chr11:125439070..125439799-chr2:10588616..10589170,2	HCT-116	colon:
5	chr1:85725140..85725768-chr2:10588151..10588652,2	MCF-7	breast:
6	chr19:39897578..39898321-chr2:10587983..10588853,2	Hela-S3	cervix:
7	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
8	chr2:10265245..10266788-chr2:10587089..10589177,2	K562	blood:
9	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
10	chr14:94547166..94547694-chr2:10588672..10589265,2	HCT-116	colon:
11	chr1:27481139..27481769-chr2:10588437..10589315,2	NB4	blood:
12	chr2:10599177..10602041-chr2:10606056..10609935,6	MCF-7	breast:
13	chr17:56708807..56709356-chr2:10588054..10588762,2	Hela-S3	cervix:
14	chr2:10191630..10196148-chr2:10586386..10589794,5	K562	blood:
15	chr2:10259710..10265084-chr2:10586364..10590442,7	MCF-7	breast:
16	chr2:10258968..10261511-chr2:10592370..10593995,2	MCF-7	breast:
17	chr2:10583289..10586276-chr2:10586900..10589856,4	MCF-7	breast:
18	chr2:10588007..10588995-chr20:62587586..62588155,2	Hela-S3	cervix:
19	chr2:10546025..10548259-chr2:10592640..10594576,2	MCF-7	breast:
20	chr2:10183697..10185477-chr2:10588092..10590281,2	K562	blood:
21	chr2:10596837..10598747-chr2:10600609..10603052,2	K562	blood:
22	chr2:10594316..10596675-chr2:10601080..10603064,2	K562	blood:
23	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
24	chr2:10598201..10598757-chr2:10630926..10631507,2	MCF-7	breast:
25	chr2:10588336..10588842-chr5:34007597..34008142,2	Hela-S3	cervix:
26	chr11:77184882..77185407-chr2:10587988..10588765,2	HCT-116	colon:
27	chr1:204463219..204463852-chr2:10587588..10588349,2	Hela-S3	cervix:
28	chr2:9982517..9985169-chr2:10586715..10588876,2	K562	blood:
29	chr2:10266406..10268179-chr2:10582965..10585269,2	K562	blood:
30	chr2:10420712..10423243-chr2:10586890..10589076,2	K562	blood:
31	chr2:10582625..10584747-chr2:10800215..10801881,2	K562	blood:
32	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
33	chr2:10274887..10276601-chr2:10582184..10584969,2	K562	blood:
34	chr2:10594206..10596318-chr2:10596724..10599167,2	K562	blood:
35	chr2:10594206..10596318-chr2:10596724..10599167,2	K562	blood:
36	chr2:10394552..10396984-chr2:10589964..10592378,2	K562	blood:
37	chr2:10587837..10588679-chr9:136214618..136215524,2	Hela-S3	cervix:
38	chr2:10574850..10580139-chr2:10582463..10585343,4	MCF-7	breast:
39	chr2:10598555..10604407-chr2:10604583..10609501,9	K562	blood:
40	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
41	chr12:53400061..53400730-chr2:10588280..10589184,2	Hela-S3	cervix:
42	chr2:10588714..10590244-chr2:10595473..10597042,2	MCF-7	breast:
43	chr2:10592821..10595516-chr2:10596638..10600708,3	MCF-7	breast:
44	chr2:10586529..10589550-chr2:10592115..10595368,3	MCF-7	breast:
45	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
46	chr2:10598894..10601084-chr2:10611398..10613354,2	K562	blood:
47	chr2:10589361..10589892-chr3:50336432..50336956,2	Hela-S3	cervix:
48	chr2:10493099..10495765-chr2:10590269..10592388,2	MCF-7	breast:
49	chr2:10441275..10444094-chr2:10585125..10586626,2	MCF-7	breast:
50	chr2:10596576..10598747-chr2:10600505..10604062,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-1	chr2:10589854-10589997	ENSG00000257135
2	lnc-HPCAL1-1	chr2:10590179-10590407	ENSG00000257135
3	lnc-HPCAL1-1	chr2:10589695-10589997	NONHSAT069111
4	lnc-HPCAL1-1	chr2:10594139-10594185	XLOC_001342
5	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
6	lnc-HPCAL1-1	chr2:10593995-10594184	ENSG00000217258.2
7	lnc-HPCAL1-1	chr2:10595549-10597755	XLOC_001342
8	lnc-HPCAL1-1	chr2:10594139-10594184	XLOC_001342
9	lnc-HPCAL1-1	chr2:10590179-10590407	XLOC_001342
10	lnc-HPCAL1-1	chr2:10594139-10594184	XLOC_001342
11	lnc-HPCAL1-1	chr2:10590179-10590407	NONHSAT069111
12	lnc-HPCAL1-1	chr2:10590562-10590920	ENSG00000257135
13	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
14	lnc-HPCAL1-1	chr2:10589731-10590781	XLOC_001342
15	lnc-HPCAL1-1	chr2:10592445-10592595	ENSG00000217258.2
16	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
17	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
18	lnc-HPCAL1-1	chr2:10590264-10590918	NONHSAT069114
19	lnc-HPCAL1-1	chr2:10592407-10592595	NONHSAT069111
20	lnc-HPCAL1-1	chr2:10595549-10597698	XLOC_001342
21	lnc-HPCAL1-1	chr2:10589581-10590407	XLOC_001342
22	lnc-HPCAL1-1	chr2:10595549-10597076	XLOC_001342
23	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
24	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
25	lnc-HPCAL1-1	chr2:10594139-10594184	XLOC_001342
26	lnc-HPCAL1-1	chr2:10590299-10590407	XLOC_001342
27	lnc-HPCAL1-1	chr2:10589240-10589307	XLOC_001342
28	lnc-HPCAL1-1	chr2:10593995-10594043	XLOC_001342
29	lnc-HPCAL1-1	chr2:10595549-10597755	XLOC_001342
30	lnc-HPCAL1-1	chr2:10592385-10592595	XLOC_001342
31	lnc-HPCAL1-1	chr2:10590299-10590407	XLOC_001342
32	lnc-HPCAL1-1	chr2:10593995-10594184	XLOC_001342
33	lnc-HPCAL1-1	chr2:10588861-10590831	NONHSAT069104
34	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
35	lnc-HPCAL1-1	chr2:10595007-10595215	XLOC_001342
36	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
37	lnc-HPCAL1-1	chr2:10592407-10592413	XLOC_001342
38	lnc-HPCAL1-1	chr2:10595372-10595394	ENSG00000217258.2
39	lnc-HPCAL1-1	chr2:10593995-10594318	NONHSAT069111
40	lnc-HPCAL1-1	chr2:10589870-10590407	XLOC_001342
41	lnc-HPCAL1-1	chr2:10594139-10594185	XLOC_001342
42	lnc-HPCAL1-1	chr2:10592407-10592595	XLOC_001342
43	lnc-ODC1-1	chr2:10594148-10594565	l_1774_chr2:10594147-10599614_kidney
44	lnc-HPCAL1-1	chr2:10592385-10592595	XLOC_001342
45	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
46	lnc-HPCAL1-1	chr2:10595549-10597076	XLOC_001342
47	lnc-HPCAL1-1	chr2:10589333-10590809	NONHSAT069109
48	lnc-HPCAL1-1	chr2:10595549-10595678	ENSG00000217258.2
49	lnc-HPCAL1-1	chr2:10589870-10589997	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
ENSG00000115756	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000177000	chromatin interactions
ENSG00000242110	chromatin interactions
ENSG00000149269	chromatin interactions
ENSG00000148297	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000271787	chromatin interactions
ENSG00000243477	chromatin interactions
ENSG00000162642	chromatin interactions
ENSG00000198276	chromatin interactions
ENSG00000115750	chromatin interactions
ENSG00000134769	chromatin interactions
ENSG00000133056	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000264030	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000217258	chromatin interactions
ENSG00000136807	chromatin interactions
ENSG00000115761	chromatin interactions
ENSG00000148303	chromatin interactions
ENSG00000089737	chromatin interactions
ENSG00000149547	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000090020	chromatin interactions
ENSG00000165948	chromatin interactions
PSIP1	miRNA target sites
EIF2C1	miRNA target sites
CTGF	miRNA target sites
PRKX	miRNA target sites
AP2A1	miRNA target sites
CHPT1	miRNA target sites
SRPK1	miRNA target sites
AP1S3	miRNA target sites
HUWE1	miRNA target sites
DICER1	miRNA target sites
PDE4D	miRNA target sites

Extended variants
information (count: 614 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28362397	chr2:10584639-10584640	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs373334646	chr2:10584640-10584641	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs568599411	chr2:10584657-10584658	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs187081116	chr2:10584699-10584700	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs114251583	chr2:10584701-10584702	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs376445830	chr2:10584754-10584755	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs367991974	chr2:10584783-10584784	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs370929260	chr2:10584816-10584817	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs566115050	chr2:10584844-10584845	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs113748944	chr2:10584847-10584848	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs558150537	chr2:10584925-10584926	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs111239078	chr2:10584926-10584927	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs190569727	chr2:10584940-10584941	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs182814014	chr2:10584963-10584964	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs28362396	chr2:10584974-10584975	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs28362395	chr2:10584977-10584978	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542123870	chr2:10584993-10584994	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs375286431	chr2:10585011-10585012	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs377617130	chr2:10585025-10585026	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs371025449	chr2:10585064-10585065	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs140096943	chr2:10585116-10585117	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs201242857	chr2:10585117-10585118	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs148808377	chr2:10585140-10585141	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs6738288	chr2:10585164-10585165	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546194327	chr2:10585211-10585212	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs564476755	chr2:10585227-10585228	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs531820365	chr2:10585232-10585233	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs371877950	chr2:10585243-10585244	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs6753098	chr2:10585256-10585257	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375522035	chr2:10585268-10585269	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs562284768	chr2:10585271-10585272	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs187187788	chr2:10585297-10585298	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs2302613	chr2:10585302-10585303	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11538365	chr2:10585303-10585304	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs2302614	chr2:10585311-10585312	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191647439	chr2:10585317-10585318	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs375809058	chr2:10585323-10585324	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs11538367	chr2:10585328-10585329	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs28364601	chr2:10585364-10585365	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs537944076	chr2:10585436-10585437	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs28362393	chr2:10585458-10585459	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs28362392	chr2:10585459-10585460	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535612811	chr2:10585481-10585482	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs547717815	chr2:10585484-10585485	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs554032515	chr2:10585486-10585487	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs572324923	chr2:10585537-10585538	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs142996021	chr2:10585560-10585561	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs558127045	chr2:10585563-10585564	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs182910693	chr2:10585570-10585571	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs28362391	chr2:10585575-10585576	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10573000-10587400	Weak transcription	Right Atrium	heart
2	chr2:10573800-10586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10577200-10587800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:10578200-10585200	Strong transcription	Brain Germinal Matrix	brain
5	chr2:10578400-10585000	Strong transcription	Thymus	Thymus
6	chr2:10578400-10585400	Strong transcription	Fetal Intestine Small	intestine
7	chr2:10578600-10585000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:10578600-10585200	Strong transcription	HSMMtube	muscle
9	chr2:10578600-10585400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:10578600-10585600	Strong transcription	A549	lung
11	chr2:10578800-10584800	Strong transcription	NHLF	lung
12	chr2:10578800-10585000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:10578800-10585000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:10578800-10585000	Strong transcription	Gastric	stomach
15	chr2:10578800-10585200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr2:10578800-10585200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:10578800-10585200	Strong transcription	Fetal Stomach	stomach
18	chr2:10578800-10585200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:10578800-10585400	Strong transcription	Osteobl	bone
20	chr2:10578800-10585600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:10578800-10585600	Strong transcription	Primary T cells from cord blood	blood
22	chr2:10579000-10584800	Strong transcription	Dnd41	blood
23	chr2:10579000-10585000	Strong transcription	Esophagus	oesophagus
24	chr2:10579000-10585000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:10579000-10585000	Strong transcription	Spleen	Spleen
26	chr2:10579000-10585000	Strong transcription	NHEK	skin
27	chr2:10579000-10585200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr2:10579000-10585200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:10579000-10585200	Strong transcription	HepG2	liver
30	chr2:10579000-10585400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:10579000-10585400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:10579000-10585400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:10579000-10585600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:10579000-10585600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:10579200-10584800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:10579200-10585000	Strong transcription	Ovary	ovary
37	chr2:10579200-10585000	Strong transcription	NH-A	brain
38	chr2:10579200-10585200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:10579200-10585200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:10579200-10585200	Strong transcription	NHDF-Ad	bronchial
41	chr2:10579200-10585400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:10579200-10585600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:10579200-10585600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:10579400-10584800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:10579400-10584800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:10579400-10584800	Strong transcription	Pancreas	Pancrea
47	chr2:10579400-10584800	Strong transcription	HSMM	muscle
48	chr2:10579400-10585000	Strong transcription	Brain Angular Gyrus	brain
49	chr2:10579400-10585200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:10579400-10585200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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