Variant report

Variant	esv1835530
Chromosome Location	chr2:10585687-10591407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1144)
CpG islands
(count:795)
Chromatin interactive
region (count:39)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1144 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:10588104-10588185	K562	blood:	n/a	n/a
2	ARID3A	chr2:10588802-10589018	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:10586574-10586586	K562	blood:	n/a	n/a
4	ARID3A	chr2:10588545-10588559	K562	blood:	n/a	n/a
5	ARID3A	chr2:10589822-10590468	HepG2	liver:	n/a	n/a
6	ATF2	chr2:10585443-10585956	GM12878	blood:	n/a	n/a
7	ATF2	chr2:10588737-10589160	GM12878	blood:	n/a	n/a
8	ATF2	chr2:10588724-10589212	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr2:10585388-10585812	GM12878	blood:	n/a	n/a
10	ATF3	chr2:10590093-10590457	HepG2	liver:	n/a	n/a
11	ATF3	chr2:10587944-10588307	HepG2	liver:	n/a	chr2:10587963-10587972
12	ATF3	chr2:10588723-10589046	K562	blood:	n/a	n/a
13	BACH1	chr2:10588407-10589117	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr2:10588358-10588681	K562	blood:	n/a	n/a
15	BACH1	chr2:10587483-10587820	K562	blood:	n/a	n/a
16	BATF	chr2:10585571-10585813	GM12878	blood:	n/a	chr2:10585650-10585658
17	BCL11A	chr2:10585493-10585875	GM12878	blood:	n/a	chr2:10585728-10585737
18	BCL3	chr2:10587992-10588612	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
19	BCLAF1	chr2:10587426-10588480	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
20	BCLAF1	chr2:10588742-10589164	GM12878	blood:	n/a	n/a
21	BCLAF1	chr2:10585328-10585835	GM12878	blood:	n/a	chr2:10585728-10585737
22	BHLHE40	chr2:10587939-10589085	HepG2	liver:	n/a	n/a
23	BHLHE40	chr2:10587527-10589296	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:10587981-10588510	A549	lung:	n/a	n/a
25	BHLHE40	chr2:10587766-10589275	K562	blood:	n/a	n/a
26	BHLHE40	chr2:10589932-10590522	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:10585451-10585871	GM12878	blood:	n/a	n/a
28	BRCA1	chr2:10588827-10589018	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr2:10588054-10588211	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr2:10586856-10587131	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr2:10588200-10588397	GM12878	blood:	n/a	n/a
32	BRCA1	chr2:10587521-10587856	GM12878	blood:	n/a	n/a
33	BRCA1	chr2:10590159-10590409	HepG2	liver:	n/a	n/a
34	BRCA1	chr2:10587350-10587862	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr2:10588839-10589039	HepG2	liver:	n/a	n/a
36	BRCA1	chr2:10589823-10590444	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr2:10588831-10589019	GM12878	blood:	n/a	n/a
38	CBX3	chr2:10588746-10589370	K562	blood:	n/a	n/a
39	CBX3	chr2:10588718-10589067	K562	blood:	n/a	n/a
40	CCNT2	chr2:10587645-10589227	K562	blood:	n/a	chr2:10588665-10588674
41	CEBPB	chr2:10588754-10589093	K562	blood:	n/a	n/a
42	CEBPB	chr2:10590079-10590371	ECC-1	luminal epithelium:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
43	CEBPB	chr2:10590160-10590363	K562	blood:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
44	CEBPB	chr2:10587911-10588179	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr2:10590106-10590449	K562	blood:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
46	CEBPB	chr2:10590048-10590924	HepG2	liver:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
47	CEBPB	chr2:10587868-10588043	K562	blood:	n/a	n/a
48	CEBPB	chr2:10586627-10587054	K562	blood:	n/a	n/a
49	CEBPB	chr2:10590166-10590844	H1-hESC	embryonic stem cell:	n/a	chr2:10590269-10590280 chr2:10590268-10590281
50	CEBPB	chr2:10589916-10591006	A549	lung:	n/a	chr2:10590269-10590280 chr2:10590268-10590281

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10588068-10588118	PrEC	prostate:	n/a
2	chr2:10588468-10588518	NB4	blood:	n/a
3	chr2:10588068-10588118	PrEC	prostate:	n/a
4	chr2:10588468-10588518	NB4	blood:	n/a
5	chr2:10588838-10588888	MCF-7	breast:	n/a
6	chr2:10588838-10588888	LNCaP	prostate:	n/a
7	chr2:10588068-10588118	GM19239	blood:	n/a
8	chr2:10588068-10588118	Hela-S3	cervix:	n/a
9	chr2:10588068-10588118	SK-N-MC	brain:	n/a
10	chr2:10587052-10587102	HRE	kidney:	n/a
11	chr2:10587627-10587677	NT2-D1	testis:	n/a
12	chr2:10588493-10588543	HCF	heart:	n/a
13	chr2:10588434-10588484	AG10803	skin:	n/a
14	chr2:10588471-10588521	NH-A	brain:	n/a
15	chr2:10587627-10587677	IMR90	lung:	fetal
16	chr2:10589054-10589104	PrEC	prostate:	n/a
17	chr2:10588471-10588521	SK-N-SH_RA	brain:	n/a
18	chr2:10589054-10589104	H1-hESC	embryonic stem cell:	embryo
19	chr2:10586873-10586923	U87	brain:	n/a
20	chr2:10588493-10588543	HRCEpiC	kidney:	n/a
21	chr2:10588068-10588118	CMK	blood:	n/a
22	chr2:10586873-10586923	NH-A	brain:	n/a
23	chr2:10588232-10588282	CMK	blood:	n/a
24	chr2:10588468-10588518	SK-N-SH_RA	brain:	n/a
25	chr2:10589242-10589292	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:10588068-10588118	MCF10A-Er-Src	breast:	n/a
27	chr2:10588232-10588282	AG09319	gingival:	n/a
28	chr2:10587627-10587677	BJ	skin:	n/a
29	chr2:10586873-10586923	GM19239	blood:	n/a
30	chr2:10587052-10587102	BJ	skin:	n/a
31	chr2:10588471-10588521	HNPCEpiC	eye:	n/a
32	chr2:10589242-10589292	PrEC	prostate:	n/a
33	chr2:10587052-10587102	HepG2	liver:	n/a
34	chr2:10588646-10588696	HMEC	breast:	n/a
35	chr2:10588471-10588521	HMEC	breast:	n/a
36	chr2:10588232-10588282	HMEC	breast:	n/a
37	chr2:10587052-10587102	HCPEpiC	choroid plexus:	n/a
38	chr2:10588232-10588282	SKMC	muscle:	n/a
39	chr2:10586873-10586923	PFSK-1	brain:	n/a
40	chr2:10588434-10588484	HEK293	kidney:	embryo
41	chr2:10588232-10588282	HRE	kidney:	n/a
42	chr2:10588434-10588484	T-47D	breast:	n/a
43	chr2:10588838-10588888	GM12892	blood:	n/a
44	chr2:10588493-10588543	CMK	blood:	n/a
45	chr2:10588838-10588888	NH-A	brain:	n/a
46	chr2:10588468-10588518	RPTEC	kidney:	n/a
47	chr2:10587627-10587677	BE2_C	brain:	n/a
48	chr2:10588232-10588282	IMR90	lung:	fetal
49	chr2:10588434-10588484	AG04449	skin:	fetal
50	chr2:10589242-10589292	NHBE	bronchial:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10394552..10396984-chr2:10589964..10592378,2	K562	blood:
2	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
3	chr12:53400061..53400730-chr2:10588280..10589184,2	Hela-S3	cervix:
4	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
5	chr18:32072933..32074749-chr2:10587681..10589883,2	MCF-7	breast:
6	chr2:10441275..10444094-chr2:10585125..10586626,2	MCF-7	breast:
7	chr2:10177980..10179820-chr2:10584164..10586131,2	K562	blood:
8	chr1:204463219..204463852-chr2:10587588..10588349,2	Hela-S3	cervix:
9	chr2:10587002..10587961-chr9:130548122..130548787,2	Hela-S3	cervix:
10	chr2:10589361..10589892-chr3:50336432..50336956,2	Hela-S3	cervix:
11	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
12	chr2:10583289..10586276-chr2:10586900..10589856,4	MCF-7	breast:
13	chr2:10586529..10589550-chr2:10592115..10595368,3	MCF-7	breast:
14	chr2:10259710..10265084-chr2:10586364..10590442,7	MCF-7	breast:
15	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
16	chr2:10493099..10495765-chr2:10590269..10592388,2	MCF-7	breast:
17	chr1:85725140..85725768-chr2:10588151..10588652,2	MCF-7	breast:
18	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
19	chr2:10183697..10185477-chr2:10588092..10590281,2	K562	blood:
20	chr2:10583602..10586485-chr2:10613524..10616092,2	K562	blood:
21	chr2:10587837..10588679-chr9:136214618..136215524,2	Hela-S3	cervix:
22	chr2:10260223..10262864-chr2:10590912..10592995,2	K562	blood:
23	chr11:77184882..77185407-chr2:10587988..10588765,2	HCT-116	colon:
24	chr2:10191630..10196148-chr2:10586386..10589794,5	K562	blood:
25	chr19:39897578..39898321-chr2:10587983..10588853,2	Hela-S3	cervix:
26	chr2:9982517..9985169-chr2:10586715..10588876,2	K562	blood:
27	chr2:10420712..10423243-chr2:10586890..10589076,2	K562	blood:
28	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
29	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
30	chr2:10265245..10266788-chr2:10587089..10589177,2	K562	blood:
31	chr14:94547166..94547694-chr2:10588672..10589265,2	HCT-116	colon:
32	chr17:56708807..56709356-chr2:10588054..10588762,2	Hela-S3	cervix:
33	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
34	chr2:10588336..10588842-chr5:34007597..34008142,2	Hela-S3	cervix:
35	chr1:11866723..11867645-chr2:10588785..10589744,2	Hela-S3	cervix:
36	chr2:10259560..10262841-chr2:10591002..10595402,4	K562	blood:
37	chr11:125439070..125439799-chr2:10588616..10589170,2	HCT-116	colon:
38	chr1:27481139..27481769-chr2:10588437..10589315,2	NB4	blood:
39	chr2:10588007..10588995-chr20:62587586..62588155,2	Hela-S3	cervix:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-1	chr2:10590299-10590407	XLOC_001342
2	lnc-HPCAL1-1	chr2:10589240-10589307	XLOC_001342
3	lnc-HPCAL1-1	chr2:10589870-10590407	XLOC_001342
4	lnc-HPCAL1-1	chr2:10589333-10590809	NONHSAT069109
5	lnc-HPCAL1-1	chr2:10590179-10590407	NONHSAT069111
6	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
7	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
8	lnc-HPCAL1-1	chr2:10589695-10589997	NONHSAT069111
9	lnc-HPCAL1-1	chr2:10589854-10589997	ENSG00000257135
10	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
11	lnc-HPCAL1-1	chr2:10588861-10590831	NONHSAT069104
12	lnc-HPCAL1-1	chr2:10590179-10590407	XLOC_001342
13	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342
14	lnc-HPCAL1-1	chr2:10590179-10590407	ENSG00000257135
15	lnc-HPCAL1-1	chr2:10590299-10590407	XLOC_001342
16	lnc-HPCAL1-1	chr2:10589870-10589997	XLOC_001342
17	lnc-HPCAL1-1	chr2:10589731-10590781	XLOC_001342
18	lnc-HPCAL1-1	chr2:10590264-10590918	NONHSAT069114
19	lnc-HPCAL1-1	chr2:10590562-10590920	ENSG00000257135
20	lnc-HPCAL1-1	chr2:10589581-10590407	XLOC_001342
21	lnc-HPCAL1-1	chr2:10589126-10589307	XLOC_001342

No data

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

Extended variants
information (count: 216 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10490728	chr2:10585687-10585688	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28362388	chr2:10585703-10585704	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs567874992	chr2:10585706-10585707	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs79403289	chr2:10585770-10585771	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs28362387	chr2:10585814-10585815	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs28362386	chr2:10585854-10585855	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369462606	chr2:10585863-10585864	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs536995229	chr2:10585864-10585865	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs28362385	chr2:10585869-10585870	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs28362384	chr2:10585874-10585875	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs28362383	chr2:10585887-10585888	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193283609	chr2:10585907-10585908	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs3771117	chr2:10586014-10586015	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs185506311	chr2:10586055-10586056	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs373354898	chr2:10586206-10586207	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs565569114	chr2:10586220-10586221	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs553227527	chr2:10586249-10586250	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs3036408	chr2:10586276-10586277	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs566557633	chr2:10586346-10586347	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs140938192	chr2:10586364-10586365	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs538611675	chr2:10586396-10586397	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs59173521	chr2:10586401-10586402	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372685666	chr2:10586402-10586403	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs537799203	chr2:10586418-10586419	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs13401475	chr2:10586438-10586439	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189103228	chr2:10586455-10586456	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs573755335	chr2:10586509-10586510	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs558647255	chr2:10586511-10586512	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs59246308	chr2:10586530-10586531	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559518835	chr2:10586558-10586559	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs577846294	chr2:10586562-10586563	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs148879789	chr2:10586615-10586616	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs543261870	chr2:10586645-10586646	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs563796718	chr2:10586646-10586647	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs12616336	chr2:10586660-10586661	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs28362381	chr2:10586752-10586753	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs561736421	chr2:10586757-10586758	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs28362380	chr2:10586780-10586781	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7608353	chr2:10586790-10586791	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs7558222	chr2:10586811-10586812	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs539606421	chr2:10586830-10586831	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs551574424	chr2:10586843-10586844	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs569803436	chr2:10586873-10586874	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs537359517	chr2:10586884-10586885	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs555466277	chr2:10586892-10586893	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs192090667	chr2:10586898-10586899	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs184171467	chr2:10586923-10586924	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs553086215	chr2:10586948-10586949	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs577731555	chr2:10587019-10587020	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs138219715	chr2:10587085-10587086	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 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:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	chr2:10580000-10587400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:10580000-10587400	Weak transcription	Stomach Mucosa	stomach
6	chr2:10580200-10586000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:10581400-10585800	Strong transcription	HUVEC	blood vessel
8	chr2:10582000-10586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:10582600-10586600	Weak transcription	Psoas Muscle	Psoas
10	chr2:10582600-10587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:10584600-10586200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:10584600-10587600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:10584800-10585800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:10584800-10586000	Genic enhancers	Dnd41	blood
15	chr2:10584800-10586000	Genic enhancers	Hela-S3	cervix
16	chr2:10584800-10586000	Genic enhancers	HSMM	muscle
17	chr2:10584800-10586400	Weak transcription	Colonic Mucosa	Colon
18	chr2:10584800-10586400	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:10584800-10586400	Weak transcription	Small Intestine	intestine
20	chr2:10584800-10586600	Weak transcription	Aorta	Aorta
21	chr2:10584800-10586600	Weak transcription	NHLF	lung
22	chr2:10584800-10586800	Weak transcription	Brain Substantia Nigra	brain
23	chr2:10584800-10587400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:10584800-10587400	Weak transcription	Pancreas	Pancrea
25	chr2:10585000-10586400	Weak transcription	Gastric	stomach
26	chr2:10585000-10586400	Weak transcription	Thymus	Thymus
27	chr2:10585000-10586600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:10585000-10586600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:10585000-10586600	Weak transcription	Brain Angular Gyrus	brain
30	chr2:10585000-10586600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:10585000-10586600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:10585000-10586800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:10585000-10586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:10585000-10586800	Weak transcription	Adipose Nuclei	Adipose
35	chr2:10585000-10587200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:10585000-10587400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:10585000-10587400	Weak transcription	Ovary	ovary
38	chr2:10585000-10587400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:10585000-10587400	Weak transcription	Right Ventricle	heart
40	chr2:10585000-10587600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:10585000-10587600	Weak transcription	Esophagus	oesophagus
42	chr2:10585000-10587600	Transcr. at gene 5' and 3'	NHEK	skin
43	chr2:10585000-10587800	Weak transcription	Spleen	Spleen
44	chr2:10585200-10585800	Genic enhancers	Brain Germinal Matrix	brain
45	chr2:10585200-10586000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:10585200-10586000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:10585200-10586000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:10585200-10586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:10585200-10586000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:10585200-10586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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