Variant report

Variant	esv3359723
Chromosome Location	chr12:104359646-104370785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:104369129-104369481	K562	blood:	n/a	n/a
2	ARID3A	chr12:104359105-104359848	K562	blood:	n/a	n/a
3	ARID3A	chr12:104359319-104360150	HepG2	liver:	n/a	n/a
4	ATF1	chr12:104369151-104369514	K562	blood:	n/a	n/a
5	ATF2	chr12:104359099-104360045	GM12878	blood:	n/a	chr12:104359447-104359461
6	ATF2	chr12:104359175-104359844	GM12878	blood:	n/a	chr12:104359447-104359461
7	ATF2	chr12:104359265-104359871	H1-hESC	embryonic stem cell:	n/a	chr12:104359447-104359461
8	ATF2	chr12:104359134-104360010	H1-hESC	embryonic stem cell:	n/a	chr12:104359447-104359461
9	ATF3	chr12:104359297-104359975	GM12878	blood:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
10	ATF3	chr12:104359443-104359702	HepG2	liver:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
11	ATF3	chr12:104359337-104359810	H1-hESC	embryonic stem cell:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
12	ATF3	chr12:104359283-104359850	HepG2	liver:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
13	ATF3	chr12:104359117-104360284	A549	lung:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
14	ATF3	chr12:104359408-104359726	K562	blood:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
15	ATF3	chr12:104359394-104359778	H1-hESC	embryonic stem cell:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359540-104359554 chr12:104359557-104359577
16	ATF3	chr12:104359082-104360142	A549	lung:	n/a	chr12:104359568-104359577 chr12:104359449-104359460 chr12:104359100-104359111 chr12:104359540-104359554 chr12:104359557-104359577
17	BACH1	chr12:104369066-104369445	K562	blood:	n/a	n/a
18	BACH1	chr12:104359299-104359983	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr12:104360891-104361285	GM12878	blood:	n/a	chr12:104361134-104361144 chr12:104361130-104361140
20	BATF	chr12:104360964-104361220	GM12878	blood:	n/a	chr12:104361134-104361144 chr12:104361130-104361140
21	BCL3	chr12:104359050-104360242	A549	lung:	n/a	chr12:104359854-104359863 chr12:104359609-104359618 chr12:104359355-104359362 chr12:104359513-104359522
22	BCL3	chr12:104359038-104359936	A549	lung:	n/a	chr12:104359854-104359863 chr12:104359609-104359618 chr12:104359355-104359362 chr12:104359513-104359522
23	BCLAF1	chr12:104359219-104360094	GM12878	blood:	n/a	chr12:104359854-104359863 chr12:104359609-104359618 chr12:104359355-104359362 chr12:104359513-104359522
24	BCLAF1	chr12:104359164-104360165	GM12878	blood:	n/a	chr12:104359854-104359863 chr12:104359609-104359618 chr12:104359355-104359362 chr12:104359513-104359522
25	BHLHE40	chr12:104359431-104359728	A549	lung:	n/a	chr12:104359568-104359577 chr12:104359568-104359577 chr12:104359566-104359579 chr12:104359569-104359578
26	BHLHE40	chr12:104369211-104369436	K562	blood:	n/a	n/a
27	BHLHE40	chr12:104358564-104360191	K562	blood:	n/a	chr12:104359568-104359577 chr12:104359568-104359577 chr12:104359566-104359579 chr12:104359569-104359578
28	BHLHE40	chr12:104359204-104360130	HepG2	liver:	n/a	chr12:104359568-104359577 chr12:104359568-104359577 chr12:104359566-104359579 chr12:104359569-104359578
29	BHLHE40	chr12:104358564-104360073	GM12878	blood:	n/a	chr12:104359568-104359577 chr12:104359568-104359577 chr12:104359566-104359579 chr12:104359569-104359578
30	BRCA1	chr12:104359588-104360154	GM12878	blood:	n/a	n/a
31	BRCA1	chr12:104358967-104359801	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr12:104359520-104359827	HepG2	liver:	n/a	n/a
33	CBX3	chr12:104359032-104359907	K562	blood:	n/a	n/a
34	CBX3	chr12:104359376-104359780	K562	blood:	n/a	n/a
35	CCNT2	chr12:104359368-104360066	K562	blood:	n/a	n/a
36	CCNT2	chr12:104369232-104369490	K562	blood:	n/a	n/a
37	CEBPB	chr12:104359201-104359673	K562	blood:	n/a	n/a
38	CEBPD	chr12:104369129-104369618	K562	blood:	n/a	n/a
39	CEBPD	chr12:104359261-104359991	HepG2	liver:	n/a	n/a
40	CEBPD	chr12:104359183-104359903	K562	blood:	n/a	n/a
41	CEBPD	chr12:104369113-104369637	K562	blood:	n/a	n/a
42	CHD1	chr12:104358841-104360867	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr12:104358828-104360428	GM12878	blood:	n/a	n/a
44	CHD2	chr12:104359296-104360093	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr12:104359257-104359903	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr12:104359225-104360039	GM12878	blood:	n/a	n/a
47	CHD2	chr12:104359044-104360053	K562	blood:	n/a	n/a
48	CHD2	chr12:104359384-104359907	HepG2	liver:	n/a	n/a
49	CHD2	chr12:104369187-104369381	K562	blood:	n/a	n/a
50	CREB1	chr12:104359356-104359784	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104360022-104360072	SAEC	small airway:	n/a
2	chr12:104359603-104359653	HepG2	liver:	n/a
3	chr12:104360022-104360072	SAEC	small airway:	n/a
4	chr12:104359603-104359653	HepG2	liver:	n/a
5	chr12:104360022-104360072	GM06990	blood:	n/a
6	chr12:104359603-104359653	HCM	heart:	n/a
7	chr12:104359611-104359661	HepG2	liver:	n/a
8	chr12:104359611-104359661	HNPCEpiC	eye:	n/a
9	chr12:104363275-104363325	MCF-7	breast:	n/a
10	chr12:104360022-104360072	SK-N-MC	brain:	n/a
11	chr12:104359611-104359661	GM06990	blood:	n/a
12	chr12:104359732-104359782	GM19239	blood:	n/a
13	chr12:104359603-104359653	ECC-1	luminal epithelium:	n/a
14	chr12:104360213-104360263	SK-N-SH	brain:	n/a
15	chr12:104360022-104360072	HIPEpiC	eye:	n/a
16	chr12:104363275-104363325	AG09319	gingival:	n/a
17	chr12:104359732-104359782	A549	lung:	n/a
18	chr12:104360213-104360263	NHDF-neo	bronchial:	n/a
19	chr12:104360213-104360263	NH-A	brain:	n/a
20	chr12:104360213-104360263	LNCaP	prostate:	n/a
21	chr12:104360213-104360263	HAEpiC	amniotic membrane:	n/a
22	chr12:104359603-104359653	AG04450	lung:	fetal
23	chr12:104359732-104359782	K562	blood:	n/a
24	chr12:104360022-104360072	AG04450	lung:	fetal
25	chr12:104360213-104360263	IMR90	lung:	fetal
26	chr12:104363275-104363325	LNCaP	prostate:	n/a
27	chr12:104363275-104363325	BE2_C	brain:	n/a
28	chr12:104359611-104359661	Hepatocyte	liver:	n/a
29	chr12:104359732-104359782	SK-N-SH	brain:	n/a
30	chr12:104360022-104360072	PrEC	prostate:	n/a
31	chr12:104359611-104359661	HRE	kidney:	n/a
32	chr12:104363275-104363325	AG04449	skin:	fetal
33	chr12:104359603-104359653	HRPEpiC	eye:	n/a
34	chr12:104359603-104359653	HAEpiC	amniotic membrane:	n/a
35	chr12:104363275-104363325	HL-60	blood:	n/a
36	chr12:104359732-104359782	HepG2	liver:	n/a
37	chr12:104359732-104359782	T-47D	breast:	n/a
38	chr12:104360213-104360263	HCF	heart:	n/a
39	chr12:104360022-104360072	HCF	heart:	n/a
40	chr12:104359611-104359661	SK-N-SH_RA	brain:	n/a
41	chr12:104360213-104360263	SKMC	muscle:	n/a
42	chr12:104359732-104359782	SAEC	small airway:	n/a
43	chr12:104360213-104360263	PANC-1	pancreas:	n/a
44	chr12:104363275-104363325	NB4	blood:	n/a
45	chr12:104359603-104359653	CMK	blood:	n/a
46	chr12:104363275-104363325	AoSMC	blood vessel:	n/a
47	chr12:104359732-104359782	AG09309	skin:	n/a
48	chr12:104363275-104363325	K562	blood:	n/a
49	chr12:104359732-104359782	GM12891	blood:	n/a
50	chr12:104359732-104359782	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
2	chr12:104348589..104351037-chr12:104369776..104372245,2	MCF-7	breast:
3	chr12:104358555..104361363-chr12:104388778..104391446,2	MCF-7	breast:
4	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
5	chr12:104350542..104351376-chr12:104359276..104359983,4	HCT-116	colon:
6	chr12:104347143..104348904-chr12:104363665..104366015,2	K562	blood:
7	chr12:104323659..104328405-chr12:104357607..104360751,5	MCF-7	breast:
8	chr12:104323078..104325496-chr12:104361053..104362555,2	MCF-7	breast:
9	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
10	chr12:104298405..104301396-chr12:104359031..104361017,2	K562	blood:
11	chr12:104359162..104360034-chr8:81398395..81398898,2	NB4	blood:
12	chr12:104350902..104351473-chr12:104359214..104360174,3	Hela-S3	cervix:
13	chr12:104359592..104360252-chr19:7733516..7734441,2	NB4	blood:
14	chr12:104359283..104359845-chr7:99516976..99517824,2	NB4	blood:
15	chr12:104359127..104359679-chr2:122288372..122289084,2	Hela-S3	cervix:
16	chr12:104324051..104325683-chr12:104367273..104370218,2	K562	blood:
17	chr12:104350512..104351443-chr12:104359103..104360492,6	NB4	blood:
18	chr12:104322943..104325215-chr12:104358408..104360868,4	MCF-7	breast:
19	chr12:104360101..104362239-chr12:104530545..104532165,2	MCF-7	breast:
20	chr1:1510326..1510834-chr12:104359688..104360659,2	NB4	blood:
21	chr12:104364267..104367088-chr12:104376743..104378838,2	MCF-7	breast:
22	chr12:104362802..104364735-chr12:104371698..104373684,2	MCF-7	breast:
23	chr12:104322427..104325382-chr12:104363206..104365097,3	MCF-7	breast:
24	chr12:104359505..104360344-chr5:43018121..43018755,2	Hela-S3	cervix:
25	chr12:104362237..104366185-chr12:104369419..104371303,3	MCF-7	breast:
26	chr12:102510855..102512497-chr12:104358534..104361115,2	K562	blood:
27	chr1:59249378..59250086-chr12:104359514..104360028,2	Hela-S3	cervix:
28	chr12:104323420..104325747-chr12:104361567..104364932,4	MCF-7	breast:
29	chr12:104312881..104315821-chr12:104362350..104364387,2	K562	blood:
30	chr12:104361070..104362835-chr12:104394971..104397683,2	MCF-7	breast:
31	chr11:93474063..93474970-chr12:104359568..104360080,2	NB4	blood:
32	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
33	chr12:104369091..104370992-chr12:104385433..104387266,2	K562	blood:
34	chr12:104359049..104360010-chr6:105850675..105851420,2	Hela-S3	cervix:
35	chr12:104328917..104332179-chr12:104357230..104361045,4	MCF-7	breast:
36	chr12:104369082..104370853-chr12:104372418..104374505,3	K562	blood:
37	chr12:104370024..104373447-chr12:104374664..104377599,4	K562	blood:
38	chr12:104359553..104362361-chr12:104443780..104446717,2	K562	blood:
39	chr12:104350492..104351269-chr12:104359211..104359991,3	MCF-7	breast:
40	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:
41	chr12:104362237..104366185-chr12:104369419..104371303,3	MCF-7	breast:
42	chr12:104350739..104351241-chr12:104359347..104360064,2	MCF-7	breast:
43	chr12:104350497..104351651-chr12:104359273..104360330,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSP90B1-1	chr12:104359620-104359838	NONHSAT030402

Variant related genes	Relation type
C12orf73	TF binding region
TDG	TF binding region
C12orf73	CpG island
TDG	CpG island
ENSG00000182919	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000205189	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000120820	chromatin interactions
ENSG00000146833	chromatin interactions
ENSG00000177606	chromatin interactions
ENSG00000204954	chromatin interactions
ENSG00000120837	chromatin interactions
ENSG00000104918	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000075188	chromatin interactions
ENSG00000215014	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000198431	chromatin interactions
ENSG00000085377	chromatin interactions

Extended variants
information (count: 446 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4135038	chr12:104359647-104359648	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
2	rs112179075	chr12:104359677-104359678	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
3	rs375499117	chr12:104359717-104359718	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
4	rs55992953	chr12:104359721-104359722	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
5	rs374703404	chr12:104359770-104359771	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
6	rs372823872	chr12:104359779-104359780	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
7	rs368253431	chr12:104359797-104359798	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
8	rs55934318	chr12:104359801-104359802	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
9	rs370536795	chr12:104359844-104359845	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs372745088	chr12:104359858-104359859	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
11	rs55724185	chr12:104359861-104359862	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs375996909	chr12:104359871-104359872	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs200113822	chr12:104359879-104359880	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs576634110	chr12:104359889-104359890	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs369243880	chr12:104359890-104359891	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs566596617	chr12:104359896-104359897	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs371681998	chr12:104359899-104359900	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs532088009	chr12:104359920-104359921	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs552223193	chr12:104359921-104359922	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs543865904	chr12:104359930-104359931	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs4135039	chr12:104359931-104359932	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs322102	chr12:104359932-104359933	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs554848304	chr12:104359935-104359936	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs4135040	chr12:104359982-104359983	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4135041	chr12:104359992-104359993	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554048147	chr12:104360070-104360071	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs577337888	chr12:104360074-104360075	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs545994833	chr12:104360075-104360076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs556578589	chr12:104360086-104360087	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs576081331	chr12:104360120-104360121	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs190660632	chr12:104360130-104360131	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs375464651	chr12:104360169-104360170	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs561207563	chr12:104360170-104360171	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs530000525	chr12:104360181-104360182	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs147108415	chr12:104360267-104360268	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs367658554	chr12:104360282-104360283	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs4135042	chr12:104360285-104360286	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560110873	chr12:104360387-104360388	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs77588178	chr12:104360444-104360445	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs200652114	chr12:104360445-104360446	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs79960226	chr12:104360448-104360449	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs182894619	chr12:104360527-104360528	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs188060957	chr12:104360529-104360530	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs532301284	chr12:104360603-104360604	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs551997302	chr12:104360626-104360627	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs2374327	chr12:104360627-104360628	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191960881	chr12:104360666-104360667	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs577162328	chr12:104360668-104360669	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs547776591	chr12:104360705-104360706	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs3763995	chr12:104360713-104360714	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104357800-104361200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104358000-104360600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:104358000-104360800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:104358200-104360600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:104358200-104360600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:104358200-104361200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:104358400-104360600	Active TSS	Stomach Mucosa	stomach
8	chr12:104358400-104360600	Active TSS	HSMM	muscle
9	chr12:104358400-104360800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:104358400-104360800	Active TSS	Fetal Muscle Trunk	muscle
11	chr12:104358400-104360800	Active TSS	Ovary	ovary
12	chr12:104358400-104361000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:104358400-104361000	Active TSS	Fetal Intestine Large	intestine
14	chr12:104358400-104361200	Active TSS	Psoas Muscle	Psoas
15	chr12:104358600-104360400	Active TSS	Duodenum Mucosa	Duodenum
16	chr12:104358600-104360400	Active TSS	Fetal Brain Male	brain
17	chr12:104358600-104360400	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr12:104358600-104360600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:104358600-104360600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:104358600-104360600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:104358600-104360600	Active TSS	Brain Germinal Matrix	brain
22	chr12:104358600-104360600	Active TSS	Fetal Brain Female	brain
23	chr12:104358600-104360600	Active TSS	Fetal Kidney	kidney
24	chr12:104358600-104360600	Active TSS	Fetal Stomach	stomach
25	chr12:104358600-104360600	Active TSS	HUVEC	blood vessel
26	chr12:104358600-104360600	Active TSS	K562	blood
27	chr12:104358600-104360600	Active TSS	Osteobl	bone
28	chr12:104358600-104360800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:104358600-104360800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:104358600-104360800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:104358600-104360800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:104358600-104360800	Active TSS	Aorta	Aorta
33	chr12:104358600-104360800	Active TSS	A549	lung
34	chr12:104358600-104360800	Active TSS	NHDF-Ad	bronchial
35	chr12:104358600-104361000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:104358600-104361000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:104358600-104361000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:104358600-104361000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:104358600-104361000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:104358600-104361200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:104358600-104361200	Active TSS	Fetal Intestine Small	intestine
42	chr12:104358600-104361200	Active TSS	Right Atrium	heart
43	chr12:104358600-104361400	Active TSS	HSMMtube	muscle
44	chr12:104358600-104361600	Active TSS	GM12878-XiMat	blood
45	chr12:104358600-104363600	Active TSS	Right Ventricle	heart
46	chr12:104358800-104360200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr12:104358800-104360200	Active TSS	Fetal Thymus	thymus
48	chr12:104358800-104360400	Bivalent/Poised TSS	HepG2	liver
49	chr12:104358800-104360600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:104358800-104360600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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