Variant report

Variant	esv3341572
Chromosome Location	chr10:93168997-93171545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:741)
CpG islands
(count:549)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:93169589-93169798	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:93169095-93169373	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:93170740-93171104	K562	blood:	n/a	chr10:93170922-93170938
4	ARID3A	chr10:93170140-93170280	HepG2	liver:	n/a	n/a
5	ATF1	chr10:93169637-93169976	K562	blood:	n/a	n/a
6	ATF1	chr10:93169123-93169427	K562	blood:	n/a	n/a
7	ATF1	chr10:93170807-93171185	K562	blood:	n/a	n/a
8	ATF2	chr10:93168860-93169130	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr10:93169624-93169989	K562	blood:	n/a	n/a
10	BACH1	chr10:93169787-93170128	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr10:93169294-93169423	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr10:93170384-93170852	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr10:93169039-93169600	A549	lung:	n/a	n/a
14	BCLAF1	chr10:93169172-93170136	GM12878	blood:	n/a	chr10:93169792-93169805
15	BCLAF1	chr10:93169456-93170278	GM12878	blood:	n/a	chr10:93169792-93169805
16	BHLHE40	chr10:93169242-93169900	K562	blood:	n/a	n/a
17	BHLHE40	chr10:93170704-93170894	K562	blood:	n/a	n/a
18	BHLHE40	chr10:93170173-93170272	K562	blood:	n/a	n/a
19	BHLHE40	chr10:93169699-93170337	GM12878	blood:	n/a	n/a
20	BHLHE40	chr10:93169223-93170296	HepG2	liver:	n/a	n/a
21	BRCA1	chr10:93169011-93169916	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr10:93169441-93169819	HepG2	liver:	n/a	n/a
23	BRCA1	chr10:93169494-93169495	GM12878	blood:	n/a	n/a
24	CCNT2	chr10:93169332-93170426	K562	blood:	n/a	n/a
25	CEBPB	chr10:93169743-93169787	K562	blood:	n/a	n/a
26	CEBPB	chr10:93168999-93170109	Hela-S3	cervix:	n/a	chr10:93169090-93169101
27	CEBPD	chr10:93169616-93170316	HepG2	liver:	n/a	n/a
28	CEBPD	chr10:93169172-93169597	HepG2	liver:	n/a	n/a
29	CHD1	chr10:93168836-93171607	IMR90	lung:	n/a	chr10:93169948-93169958
30	CHD1	chr10:93170251-93170442	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr10:93169303-93170278	GM12878	blood:	n/a	chr10:93169948-93169958
32	CHD1	chr10:93169010-93169886	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr10:93168959-93170711	Hela-S3	cervix:	n/a	chr10:93169948-93169958
34	CHD2	chr10:93169267-93170111	HepG2	liver:	n/a	chr10:93169948-93169958
35	CHD2	chr10:93169171-93170268	GM12878	blood:	n/a	chr10:93169948-93169958
36	CHD2	chr10:93169323-93169344	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr10:93170658-93170941	K562	blood:	n/a	n/a
38	CHD2	chr10:93169714-93169991	H1-hESC	embryonic stem cell:	n/a	chr10:93169948-93169958
39	CHD2	chr10:93169649-93169807	K562	blood:	n/a	n/a
40	CREB1	chr10:93169109-93170220	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr10:93169548-93170188	K562	blood:	n/a	n/a
42	CREB1	chr10:93169702-93169954	A549	lung:	n/a	n/a
43	CREB1	chr10:93169183-93170056	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr10:93169118-93170615	HepG2	liver:	n/a	n/a
45	CREB1	chr10:93169184-93170516	A549	lung:	n/a	n/a
46	CREB1	chr10:93169197-93170216	K562	blood:	n/a	n/a
47	CREB1	chr10:93169559-93170376	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr10:93169175-93170290	GM12878	blood:	n/a	n/a
49	CTCF	chr10:93170080-93170230	GM12866	blood:	n/a	n/a
50	CTCF	chr10:93169160-93169310	HPAF	blood vessel:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:93169846-93169896	PrEC	prostate:	n/a
2	chr10:93170010-93170060	RPTEC	kidney:	n/a
3	chr10:93169846-93169896	MCF-7	breast:	n/a
4	chr10:93170467-93170517	HUVEC	blood vessel:	n/a
5	chr10:93170467-93170517	K562	blood:	n/a
6	chr10:93169846-93169896	SK-N-SH	brain:	n/a
7	chr10:93169846-93169896	PANC-1	pancreas:	n/a
8	chr10:93170010-93170060	GM06990	blood:	n/a
9	chr10:93170566-93170616	HIPEpiC	eye:	n/a
10	chr10:93170467-93170517	HCPEpiC	choroid plexus:	n/a
11	chr10:93170010-93170060	PFSK-1	brain:	n/a
12	chr10:93169801-93169851	HUVEC	blood vessel:	n/a
13	chr10:93169495-93169545	AG04449	skin:	fetal
14	chr10:93170566-93170616	HRCEpiC	kidney:	n/a
15	chr10:93168991-93169041	AG09319	gingival:	n/a
16	chr10:93170467-93170517	LNCaP	prostate:	n/a
17	chr10:93170467-93170517	Jurkat	blood:	n/a
18	chr10:93169999-93170049	K562	blood:	n/a
19	chr10:93169801-93169851	BJ	skin:	n/a
20	chr10:93169801-93169851	NT2-D1	testis:	n/a
21	chr10:93169999-93170049	NHDF-neo	bronchial:	n/a
22	chr10:93171002-93171052	HCT-116	colon:	n/a
23	chr10:93169846-93169896	U87	brain:	n/a
24	chr10:93171002-93171052	ProgFib	skin:	n/a
25	chr10:93171002-93171052	GM12892	blood:	n/a
26	chr10:93170010-93170060	H1-hESC	embryonic stem cell:	embryo
27	chr10:93169999-93170049	A549	lung:	n/a
28	chr10:93169495-93169545	HEEpiC	esophagus:	n/a
29	chr10:93170467-93170517	AG04450	lung:	fetal
30	chr10:93171002-93171052	HCPEpiC	choroid plexus:	n/a
31	chr10:93169495-93169545	SAEC	small airway:	n/a
32	chr10:93169495-93169545	HRE	kidney:	n/a
33	chr10:93170566-93170616	HL-60	blood:	n/a
34	chr10:93170566-93170616	HCPEpiC	choroid plexus:	n/a
35	chr10:93169846-93169896	AoSMC	blood vessel:	n/a
36	chr10:93169495-93169545	HIPEpiC	eye:	n/a
37	chr10:93170467-93170517	MCF-7	breast:	n/a
38	chr10:93170566-93170616	AG10803	skin:	n/a
39	chr10:93170566-93170616	Jurkat	blood:	n/a
40	chr10:93170566-93170616	CMK	blood:	n/a
41	chr10:93169801-93169851	AG09309	skin:	n/a
42	chr10:93169999-93170049	ECC-1	luminal epithelium:	n/a
43	chr10:93170010-93170060	SK-N-SH_RA	brain:	n/a
44	chr10:93168991-93169041	HAEpiC	amniotic membrane:	n/a
45	chr10:93170010-93170060	HUVEC	blood vessel:	n/a
46	chr10:93170467-93170517	GM12878	blood:	n/a
47	chr10:93169495-93169545	IMR90	lung:	fetal
48	chr10:93169999-93170049	GM12878	blood:	n/a
49	chr10:93169846-93169896	H1-hESC	embryonic stem cell:	embryo
50	chr10:93170566-93170616	HCF	heart:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:93170094..93170949-chr12:49110549..49111245,2	Hela-S3	cervix:
2	chr10:93169442..93170006-chr19:49999561..50000091,2	Hela-S3	cervix:
3	chr10:93169300..93170227-chr5:43514707..43515605,2	Hela-S3	cervix:
4	chr10:93158520..93160600-chr10:93166963..93169198,3	K562	blood:
5	chr10:93168988..93169938-chr3:88199134..88199655,2	Hela-S3	cervix:
6	chr10:93169306..93170178-chr9:140135319..140136083,2	Hela-S3	cervix:
7	chr10:93169304..93170110-chr15:66161337..66161844,2	Hela-S3	cervix:
8	chr10:93168951..93169596-chr5:125930397..125930920,2	Hela-S3	cervix:
9	chr10:93168802..93169644-chr11:84197576..84198076,2	Hela-S3	cervix:
10	chr10:93171521..93173402-chr10:93179474..93182747,3	K562	blood:
11	chr10:93169367..93170145-chr7:6388240..6389220,2	Hela-S3	cervix:
12	chr10:93169042..93169793-chr20:42839010..42839640,2	Hela-S3	cervix:
13	chr10:93169693..93170374-chr12:112450481..112451156,2	Hela-S3	cervix:
14	chr10:93159316..93160833-chr10:93167746..93169415,2	MCF-7	breast:
15	chr10:93168131..93170607-chr10:93391298..93393665,3	MCF-7	breast:
16	chr10:93168731..93169253-chr20:62670096..62670977,2	Hela-S3	cervix:
17	chr10:93168063..93170852-chr10:93390602..93395151,5	MCF-7	breast:
18	chr10:93169232..93170758-chr10:93223754..93225469,2	MCF-7	breast:
19	chr10:93169213..93169954-chr3:48955790..48956733,2	Hela-S3	cervix:
20	chr10:93169248..93169804-chr3:160166588..160167517,2	Hela-S3	cervix:
21	chr10:93168860..93169608-chr13:28033243..28034233,2	MCF-7	breast:
22	chr1:46712902..46713808-chr10:93169416..93170036,2	Hela-S3	cervix:
23	chr10:93168839..93171584-chr10:93557037..93559095,2	K562	blood:
24	chr10:93169514..93170511-chr9:33290299..33290922,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HECTD2	TF binding region
HECTD2	CpG island
ENSG00000188229	chromatin interactions
ENSG00000119938	chromatin interactions
ENSG00000198270	chromatin interactions
ENSG00000178397	chromatin interactions
ENSG00000228701	chromatin interactions
ENSG00000089248	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000085999	chromatin interactions
ENSG00000213186	chromatin interactions
ENSG00000223891	chromatin interactions
ENSG00000103769	chromatin interactions
ENSG00000142534	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000129315	chromatin interactions
ENSG00000086102	chromatin interactions
ENSG00000164904	chromatin interactions
ENSG00000132823	chromatin interactions
ENSG00000177479	chromatin interactions
ENSG00000179021	chromatin interactions
ENSG00000107854	chromatin interactions
ENSG00000271385	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531150246	chr10:93169023-93169024	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs550820829	chr10:93169031-93169032	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs570811513	chr10:93169033-93169034	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs141589394	chr10:93169081-93169082	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs111871435	chr10:93169084-93169085	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs369887418	chr10:93169150-93169151	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs7076967	chr10:93169202-93169203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559887648	chr10:93169217-93169218	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs188624610	chr10:93169224-93169225	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs373145655	chr10:93169226-93169227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs370306196	chr10:93169262-93169263	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs555852121	chr10:93169316-93169317	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs193160512	chr10:93169362-93169363	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs569394286	chr10:93169377-93169378	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs74887456	chr10:93169407-93169408	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs577259268	chr10:93169420-93169421	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs528694740	chr10:93169423-93169424	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs553030067	chr10:93169499-93169500	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs369694891	chr10:93169505-93169506	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs541524038	chr10:93169599-93169600	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs561830453	chr10:93169604-93169605	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs530959188	chr10:93169618-93169619	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs185061189	chr10:93169640-93169641	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs564429716	chr10:93169688-93169689	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs533479979	chr10:93169692-93169693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs546568044	chr10:93169745-93169746	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs7098874	chr10:93169770-93169771	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs529304135	chr10:93169843-93169844	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs549169834	chr10:93169894-93169895	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs569339269	chr10:93169901-93169902	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs111309031	chr10:93169905-93169906	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs146186055	chr10:93169908-93169909	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs139084796	chr10:93169909-93169910	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs570734829	chr10:93169946-93169947	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs7081363	chr10:93169949-93169950	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530343401	chr10:93169963-93169964	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs145070400	chr10:93170012-93170013	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs572708476	chr10:93170015-93170016	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs541810879	chr10:93170016-93170017	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs572073107	chr10:93170041-93170042	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs543267078	chr10:93170076-93170077	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs375432316	chr10:93170216-93170217	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs7081569	chr10:93170250-93170251	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs531122700	chr10:93170309-93170310	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs575337494	chr10:93170356-93170357	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs80099715	chr10:93170366-93170367	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs398097139	chr10:93170367-93170368	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs368992277	chr10:93170406-93170407	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs372558629	chr10:93170427-93170428	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs75727580	chr10:93170547-93170548	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93162800-93169000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:93168000-93169000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:93168200-93170600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:93168400-93169000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:93168400-93170800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:93168600-93169000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr10:93168600-93169000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:93168600-93169000	Enhancers	Fetal Heart	heart
9	chr10:93168600-93169000	Flanking Active TSS	Fetal Kidney	kidney
10	chr10:93168600-93169000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr10:93168600-93169000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr10:93168600-93169000	Active TSS	HepG2	liver
13	chr10:93168600-93169200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:93168600-93169200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:93168600-93169400	Flanking Active TSS	Dnd41	blood
16	chr10:93168600-93169400	Active TSS	HMEC	breast
17	chr10:93168600-93170400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr10:93168600-93170400	Active TSS	Brain Angular Gyrus	brain
19	chr10:93168600-93170400	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr10:93168600-93171000	Active TSS	Colon Smooth Muscle	Colon
21	chr10:93168600-93171000	Active TSS	Fetal Intestine Large	intestine
22	chr10:93168600-93171200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:93168600-93171400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:93168600-93171400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:93168600-93171400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:93168600-93171400	Active TSS	A549	lung
27	chr10:93168600-93171600	Active TSS	Fetal Brain Female	brain
28	chr10:93168800-93169000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:93168800-93169000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr10:93168800-93169000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr10:93168800-93169000	Enhancers	Primary B cells from cord blood	blood
32	chr10:93168800-93169000	Enhancers	Primary B cells from peripheral blood	blood
33	chr10:93168800-93169000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr10:93168800-93169000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr10:93168800-93169000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:93168800-93169000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:93168800-93169000	Flanking Active TSS	HSMM	muscle
38	chr10:93168800-93169200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr10:93168800-93169200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr10:93168800-93169200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr10:93168800-93169200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:93168800-93169200	Flanking Active TSS	Liver	Liver
43	chr10:93168800-93169200	Active TSS	Brain Germinal Matrix	brain
44	chr10:93168800-93169200	Active TSS	Colonic Mucosa	Colon
45	chr10:93168800-93169200	Active TSS	Right Atrium	heart
46	chr10:93168800-93169200	Flanking Active TSS	NH-A	brain
47	chr10:93168800-93169200	Flanking Active TSS	Osteobl	bone
48	chr10:93168800-93169400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr10:93168800-93169400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr10:93168800-93169400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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