Variant report

Variant	esv1817371
Chromosome Location	chr1:62901935-63129697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2231)
CpG islands
(count:1220)
Chromatin interactive
region (count:88)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:2231 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:62989615-62989964	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:62973945-62974173	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:62901258-62902741	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:63079529-63079891	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:62982221-62982850	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:62974871-62975190	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:62980657-62981059	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:63087554-63088043	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:62905435-62905979	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:63004676-63005485	K562	blood:	n/a	n/a
11	ARID3A	chr1:62904048-62904475	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:63089241-63089296	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:63074554-63075140	HepG2	liver:	n/a	n/a
14	ARID3A	chr1:63059494-63060018	HepG2	liver:	n/a	chr1:63059505-63059521
15	ARID3A	chr1:62901879-62902538	K562	blood:	n/a	n/a
16	ATF1	chr1:63004842-63005160	K562	blood:	n/a	n/a
17	ATF1	chr1:62901838-62902684	K562	blood:	n/a	n/a
18	ATF1	chr1:63087652-63087993	K562	blood:	n/a	n/a
19	ATF1	chr1:62907298-62907358	K562	blood:	n/a	n/a
20	ATF2	chr1:63087614-63088085	GM12878	blood:	n/a	n/a
21	ATF2	chr1:62901438-62902738	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr1:62901456-62902020	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr1:62901567-62902129	GM12878	blood:	n/a	n/a
24	ATF2	chr1:62902170-62902607	GM12878	blood:	n/a	n/a
25	ATF2	chr1:63087593-63087996	GM12878	blood:	n/a	n/a
26	ATF2	chr1:63078872-63079532	GM12878	blood:	n/a	n/a
27	ATF2	chr1:62902167-62902778	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr1:62901221-62902835	GM12878	blood:	n/a	n/a
29	ATF3	chr1:63087496-63087981	A549	lung:	n/a	n/a
30	ATF3	chr1:63087530-63087957	A549	lung:	n/a	n/a
31	ATF3	chr1:62902291-62902815	A549	lung:	n/a	chr1:62902451-62902460
32	ATF3	chr1:62902447-62902784	A549	lung:	n/a	chr1:62902451-62902460
33	ATF3	chr1:63087594-63087996	K562	blood:	n/a	n/a
34	BACH1	chr1:62903097-62903219	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr1:62902296-62902773	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr1:62928117-62928312	K562	blood:	n/a	n/a
37	BATF	chr1:62905705-62905943	GM12878	blood:	n/a	n/a
38	BATF	chr1:63091155-63091470	GM12878	blood:	n/a	n/a
39	BATF	chr1:63087603-63088001	GM12878	blood:	n/a	n/a
40	BATF	chr1:63064713-63065027	GM12878	blood:	n/a	chr1:63064849-63064860
41	BATF	chr1:62905691-62905978	GM12878	blood:	n/a	n/a
42	BATF	chr1:63087655-63088035	GM12878	blood:	n/a	n/a
43	BATF	chr1:62913935-62914245	GM12878	blood:	n/a	chr1:62914067-62914075
44	BATF	chr1:63064757-63064998	GM12878	blood:	n/a	chr1:63064849-63064860
45	BCL11A	chr1:63091142-63091436	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:63087711-63088043	GM12878	blood:	n/a	n/a
47	BCL3	chr1:62901631-62902177	A549	lung:	n/a	chr1:62901676-62901689 chr1:62902012-62902021
48	BCL3	chr1:62902313-62902891	A549	lung:	n/a	n/a
49	BCL3	chr1:63087446-63088045	A549	lung:	n/a	n/a
50	BCLAF1	chr1:62901365-62903048	GM12878	blood:	n/a	chr1:62902971-62902984 chr1:62901676-62901689 chr1:62902012-62902021

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:62902319-62902369	MCF10A-Er-Src	breast:	n/a
2	chr1:62953857-62953907	Jurkat	blood:	n/a
3	chr1:62907616-62907666	HMEC	breast:	n/a
4	chr1:62902122-62902172	PrEC	prostate:	n/a
5	chr1:62902081-62902131	K562	blood:	n/a
6	chr1:62902662-62902712	AG10803	skin:	n/a
7	chr1:63062489-63062539	PFSK-1	brain:	n/a
8	chr1:62902122-62902172	HepG2	liver:	n/a
9	chr1:62902122-62902172	GM12878	blood:	n/a
10	chr1:62902122-62902172	ECC-1	luminal epithelium:	n/a
11	chr1:62902269-62902319	LNCaP	prostate:	n/a
12	chr1:62903581-62903631	HIPEpiC	eye:	n/a
13	chr1:62902081-62902131	A549	lung:	n/a
14	chr1:62903581-62903631	HRE	kidney:	n/a
15	chr1:63062724-63062774	HRPEpiC	eye:	n/a
16	chr1:62902208-62902258	BE2_C	brain:	n/a
17	chr1:62902208-62902258	H1-hESC	embryonic stem cell:	embryo
18	chr1:62902208-62902258	AG10803	skin:	n/a
19	chr1:63004738-63004788	IMR90	lung:	fetal
20	chr1:63062724-63062774	AG10803	skin:	n/a
21	chr1:62902122-62902172	HIPEpiC	eye:	n/a
22	chr1:62953857-62953907	SK-N-SH_RA	brain:	n/a
23	chr1:63043009-63043059	HEK293	kidney:	embryo
24	chr1:62902271-62902321	HIPEpiC	eye:	n/a
25	chr1:62902687-62902737	LNCaP	prostate:	n/a
26	chr1:62902599-62902649	GM06990	blood:	n/a
27	chr1:63062212-63062262	ECC-1	luminal epithelium:	n/a
28	chr1:62903581-62903631	H1-hESC	embryonic stem cell:	embryo
29	chr1:63062212-63062262	GM12878	blood:	n/a
30	chr1:62902122-62902172	BE2_C	brain:	n/a
31	chr1:62953857-62953907	T-47D	breast:	n/a
32	chr1:62902255-62902305	Jurkat	blood:	n/a
33	chr1:62902255-62902305	ovcar-3	ovarian:	n/a
34	chr1:62953857-62953907	HEEpiC	esophagus:	n/a
35	chr1:63062212-63062262	NB4	blood:	n/a
36	chr1:62902269-62902319	GM12891	blood:	n/a
37	chr1:62904021-62904071	IMR90	lung:	fetal
38	chr1:62902687-62902737	NH-A	brain:	n/a
39	chr1:62903581-62903631	Hela-S3	cervix:	n/a
40	chr1:63062212-63062262	BE2_C	brain:	n/a
41	chr1:62904021-62904071	HCT-116	colon:	n/a
42	chr1:62902081-62902131	AG09309	skin:	n/a
43	chr1:62902687-62902737	ProgFib	skin:	n/a
44	chr1:62902319-62902369	HNPCEpiC	eye:	n/a
45	chr1:62902122-62902172	AG09319	gingival:	n/a
46	chr1:62902687-62902737	T-47D	breast:	n/a
47	chr1:63062212-63062262	GM06990	blood:	n/a
48	chr1:62902208-62902258	AG04450	lung:	fetal
49	chr1:62902662-62902712	NT2-D1	testis:	n/a
50	chr1:63043009-63043059	H1-hESC	embryonic stem cell:	embryo

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:62956362..62957936-chr1:62958074..62960377,2	K562	blood:
2	chr1:63003746..63006809-chr1:63007404..63009802,3	K562	blood:
3	chr1:63063122..63065536-chr1:63066571..63069108,3	K562	blood:
4	chr1:63063122..63065536-chr1:63066571..63069108,3	K562	blood:
5	chr1:62902231..62902795-chr11:63952962..63953614,2	Hela-S3	cervix:
6	chr1:63126981..63129509-chr1:63133122..63135258,2	K562	blood:
7	chr1:63012973..63015432-chr1:63018260..63019797,2	K562	blood:
8	chr1:63081404..63083878-chr1:63086190..63087709,2	K562	blood:
9	chr1:62902647..62903450-chr7:17979863..17980622,2	Hela-S3	cervix:
10	chr1:62902990..62903553-chr16:88600315..88601014,2	Hela-S3	cervix:
11	chr1:62915302..62917665-chr1:62927011..62928791,2	K562	blood:
12	chr1:62901740..62902708-chr11:108337889..108338532,2	Hela-S3	cervix:
13	chr1:62901602..62904086-chr1:62967299..62969350,2	MCF-7	breast:
14	chr1:63009857..63011492-chr1:63151811..63154556,2	K562	blood:
15	chr1:62902386..62902894-chr1:109505676..109506461,2	Hela-S3	cervix:
16	chr1:62903526..62905902-chr1:62994645..62996175,2	K562	blood:
17	chr1:62901235..62902370-chr5:108063481..108064306,3	Hela-S3	cervix:
18	chr1:62929093..62931138-chr1:62937429..62939832,2	K562	blood:
19	chr1:62901242..62902144-chr3:156877661..156878193,2	Hela-S3	cervix:
20	chr1:62901903..62904232-chr1:63787330..63789698,2	K562	blood:
21	chr1:63114096..63117270-chr1:63118025..63120771,3	K562	blood:
22	chr1:62996451..62998625-chr1:63013165..63014900,2	K562	blood:
23	chr1:62901585..62903674-chr1:62993916..62996899,2	MCF-7	breast:
24	chr1:62917044..62918978-chr1:62973057..62975934,2	K562	blood:
25	chr1:62901788..62902842-chr1:167905408..167906072,3	Hela-S3	cervix:
26	chr1:62918421..62920309-chr1:62921634..62923653,3	K562	blood:
27	chr1:62903692..62905802-chr1:63153946..63155842,2	K562	blood:
28	chr1:63088346..63090747-chr1:63093561..63095201,2	K562	blood:
29	chr1:62901585..62903674-chr1:62993916..62996899,2	MCF-7	breast:
30	chr1:63081404..63083878-chr1:63086190..63087709,2	K562	blood:
31	chr1:62991617..62994213-chr1:63008583..63010942,2	K562	blood:
32	chr1:62190320..62192154-chr1:62900473..62901978,2	MCF-7	breast:
33	chr1:63088603..63091388-chr1:63093156..63095465,2	K562	blood:
34	chr1:63065055..63067391-chr1:63081562..63083375,2	K562	blood:
35	chr1:62903526..62905902-chr1:62994645..62996175,2	K562	blood:
36	chr1:63115924..63118859-chr1:63121146..63123214,2	K562	blood:
37	chr1:63003746..63006809-chr1:63007404..63009802,3	K562	blood:
38	chr1:63012973..63015432-chr1:63018260..63019797,2	K562	blood:
39	chr1:62899539..62901299-chr1:62907455..62909142,2	MCF-7	breast:
40	chr1:63104828..63107680-chr1:63108196..63110831,3	K562	blood:
41	chr1:63004148..63006809-chr1:63007404..63009476,3	K562	blood:
42	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:
43	chr1:63081752..63083296-chr1:63090887..63092573,2	MCF-7	breast:
44	chr1:63041177..63043881-chr1:63065271..63067711,2	K562	blood:
45	chr1:62917044..62918978-chr1:62973057..62975934,2	K562	blood:
46	chr1:62988619..62991313-chr1:63249394..63251247,2	K562	blood:
47	chr1:62901760..62902424-chr11:113746254..113746906,2	Hela-S3	cervix:
48	chr1:62901507..62902024-chr13:113862415..113863390,2	Hela-S3	cervix:
49	chr1:62929093..62931138-chr1:62937429..62939832,2	K562	blood:
50	chr1:63063894..63067391-chr1:63081562..63083857,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPTL3-1	chr1:62996307-62996544	NONHSAT003633
2	lnc-USP1-1	chr1:63066705-63066867	NONHSAT003634
3	lnc-USP1-1	chr1:63067440-63067553	NONHSAT003634
4	lnc-USP1-1	chr1:63067956-63068051	NONHSAT003634

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	DOCK7	hsa-miR-30a-5p	chr1:63050383-63050404
2	DOCK7	hsa-miR-30a-5p	chr1:62920692-62920685
3	USP1	hsa-miR-215-5p	chr1:62917365-62917385
4	USP1	hsa-miR-192-5p	chr1:62917365-62917385
5	DOCK7	hsa-miR-30a-5p	chr1:62920686-62920708

Variant related genes	Relation type
ENSG00000269624	TF binding region
DOCK7	TF binding region
ENSG00000213703	TF binding region
USP1	TF binding region
ENSG00000270549	TF binding region
ANGPTL3	TF binding region
ENSG00000269624	CpG island
DOCK7	CpG island
ENSG00000213703	CpG island
USP1	CpG island
ENSG00000270549	CpG island
ANGPTL3	CpG island
ENSG00000139842	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000121940	chromatin interactions
ENSG00000270549	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000048028	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000269624	chromatin interactions
ENSG00000230798	chromatin interactions
ENSG00000225675	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000249572	chromatin interactions
ENSG00000235545	chromatin interactions
ENSG00000272523	chromatin interactions
ENSG00000166323	chromatin interactions
ENSG00000162604	chromatin interactions
ENSG00000162599	chromatin interactions
ENSG00000187140	chromatin interactions
ENSG00000162641	chromatin interactions
ENSG00000149636	chromatin interactions
ENSG00000132855	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000160888	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000071189	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000213703	chromatin interactions
ENSG00000184363	chromatin interactions
ENSG00000162607	chromatin interactions
ENSG00000116641	chromatin interactions
ENSG00000125703	chromatin interactions
ENSG00000157193	chromatin interactions

Extended variants
information (count: 8132 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:8132 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76528720	chr1:62901935-62901936	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs558696610	chr1:62901984-62901985	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs577142032	chr1:62901987-62901988	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs11579036	chr1:62902009-62902010	Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs631982	chr1:62902012-62902013	Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553611501	chr1:62902013-62902014	Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs572000750	chr1:62902052-62902053	Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs41289440	chr1:62902099-62902100	Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs554730240	chr1:62902106-62902107	Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs576093749	chr1:62902111-62902112	Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs543474054	chr1:62902311-62902312	Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs564726625	chr1:62902330-62902331	Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs532101768	chr1:62902386-62902387	Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs17123622	chr1:62902387-62902388	Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs560134234	chr1:62902409-62902410	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs530395758	chr1:62902433-62902434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs548533391	chr1:62902439-62902440	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs570197216	chr1:62902448-62902449	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs151272997	chr1:62902458-62902459	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs368451431	chr1:62902462-62902463	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs552594347	chr1:62902472-62902473	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs570767971	chr1:62902481-62902482	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs534737665	chr1:62902543-62902544	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs552947604	chr1:62902556-62902557	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs375108689	chr1:62902582-62902583	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs375494462	chr1:62902682-62902683	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs530890312	chr1:62902702-62902703	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs554473888	chr1:62902713-62902714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs576161494	chr1:62902739-62902740	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs543171769	chr1:62902742-62902743	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs558655749	chr1:62902762-62902763	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs576992965	chr1:62902769-62902770	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs541075880	chr1:62902774-62902775	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs552320458	chr1:62902810-62902811	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs375113601	chr1:62902820-62902821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs542461889	chr1:62902821-62902822	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs563751568	chr1:62902839-62902840	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs531099031	chr1:62902842-62902843	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs646179	chr1:62902874-62902875	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs186310124	chr1:62902891-62902892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs367696559	chr1:62902892-62902893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs570637480	chr1:62902893-62902894	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs534852853	chr1:62902945-62902946	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs546627458	chr1:62902997-62902998	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs140511379	chr1:62903032-62903033	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs536166604	chr1:62903068-62903069	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs369456194	chr1:62903083-62903084	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs184123910	chr1:62903090-62903091	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs537280816	chr1:62903119-62903120	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs558471294	chr1:62903146-62903147	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4374 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62900400-62904200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:62901000-62902400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:62901000-62902600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:62901000-62903000	Active TSS	Brain Germinal Matrix	brain
5	chr1:62901000-62903400	Active TSS	HSMMtube	muscle
6	chr1:62901000-62903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:62901000-62903600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:62901000-62903800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:62901000-62903800	Active TSS	Fetal Lung	lung
10	chr1:62901000-62904000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:62901000-62904000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:62901000-62904200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:62901000-62904200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:62901000-62904400	Active TSS	Psoas Muscle	Psoas
15	chr1:62901000-62904600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:62901000-62904600	Active TSS	Fetal Kidney	kidney
17	chr1:62901000-62904600	Active TSS	Right Ventricle	heart
18	chr1:62901000-62904800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:62901000-62904800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:62901000-62904800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:62901000-62905000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:62901000-62905000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:62901000-62905000	Active TSS	HSMM	muscle
24	chr1:62901000-62905200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:62901000-62905200	Active TSS	A549	lung
26	chr1:62901000-62905600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:62901000-62905800	Active TSS	NHLF	lung
28	chr1:62901000-62906200	Active TSS	GM12878-XiMat	blood
29	chr1:62901200-62902000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:62901200-62903600	Active TSS	Brain Substantia Nigra	brain
31	chr1:62901200-62903600	Active TSS	Spleen	Spleen
32	chr1:62901200-62903800	Active TSS	Placenta Amnion	Placenta Amnion
33	chr1:62901200-62904000	Active TSS	Colonic Mucosa	Colon
34	chr1:62901200-62904000	Active TSS	Lung	lung
35	chr1:62901200-62904000	Active TSS	Small Intestine	intestine
36	chr1:62901200-62904200	Active TSS	Fetal Muscle Trunk	muscle
37	chr1:62901200-62904200	Active TSS	Left Ventricle	heart
38	chr1:62901200-62904200	Active TSS	Ovary	ovary
39	chr1:62901200-62904400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:62901200-62904400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:62901200-62904800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:62901400-62902400	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr1:62901400-62903600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:62901400-62903600	Active TSS	Liver	Liver
45	chr1:62901400-62903600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:62901400-62903800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:62901400-62903800	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr1:62901400-62903800	Active TSS	Colon Smooth Muscle	Colon
49	chr1:62901400-62904000	Active TSS	Aorta	Aorta
50	chr1:62901400-62904000	Active TSS	Fetal Heart	heart

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