Variant report

Variant	nsv541611
Chromosome Location	chr12:118575000-118638613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1410)
CpG islands
(count:671)
Chromatin interactive
region (count:87)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1410 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:118620091-118620450	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:118619341-118619709	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:118603025-118603194	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:118576497-118576851	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:118620107-118620331	K562	blood:	n/a	n/a
6	ATF1	chr12:118620098-118620382	K562	blood:	n/a	n/a
7	ATF2	chr12:118604677-118605125	GM12878	blood:	n/a	n/a
8	ATF2	chr12:118583178-118583628	GM12878	blood:	n/a	n/a
9	ATF2	chr12:118604521-118605265	GM12878	blood:	n/a	n/a
10	BACH1	chr12:118612244-118612279	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:118626894-118626936	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr12:118635833-118636149	GM12878	blood:	n/a	n/a
13	BATF	chr12:118620105-118620367	GM12878	blood:	n/a	n/a
14	BATF	chr12:118604653-118605092	GM12878	blood:	n/a	n/a
15	BATF	chr12:118604602-118605156	GM12878	blood:	n/a	n/a
16	BCL11A	chr12:118604669-118605098	GM12878	blood:	n/a	n/a
17	BCL11A	chr12:118613927-118614235	GM12878	blood:	n/a	n/a
18	BCL11A	chr12:118604695-118605097	GM12878	blood:	n/a	n/a
19	BCL3	chr12:118604736-118605113	GM12878	blood:	n/a	n/a
20	BCLAF1	chr12:118604532-118605164	GM12878	blood:	n/a	n/a
21	BCLAF1	chr12:118604594-118605163	GM12878	blood:	n/a	n/a
22	BCLAF1	chr12:118620009-118620417	GM12878	blood:	n/a	n/a
23	BHLHE40	chr12:118614026-118614192	GM12878	blood:	n/a	n/a
24	BHLHE40	chr12:118619503-118619643	GM12878	blood:	n/a	n/a
25	BHLHE40	chr12:118621095-118621260	GM12878	blood:	n/a	n/a
26	BHLHE40	chr12:118576576-118576841	HepG2	liver:	n/a	n/a
27	BHLHE40	chr12:118604653-118605543	GM12878	blood:	n/a	n/a
28	BHLHE40	chr12:118620100-118620295	K562	blood:	n/a	n/a
29	BRCA1	chr12:118620094-118620304	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr12:118580856-118580910	HepG2	liver:	n/a	n/a
31	CEBPB	chr12:118576400-118576860	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:118607528-118607532	K562	blood:	n/a	n/a
33	CEBPB	chr12:118576529-118576797	HepG2	liver:	n/a	n/a
34	CEBPB	chr12:118620119-118620457	H1-hESC	embryonic stem cell:	n/a	chr12:118620314-118620325
35	CEBPB	chr12:118620124-118620398	HepG2	liver:	n/a	chr12:118620314-118620325
36	CEBPB	chr12:118607519-118607665	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr12:118620064-118620410	MCF-7	breast:	n/a	chr12:118620314-118620325
38	CEBPB	chr12:118626432-118626753	IMR90	lung:	n/a	n/a
39	CEBPB	chr12:118603931-118604060	HepG2	liver:	n/a	n/a
40	CEBPB	chr12:118620068-118620518	A549	lung:	n/a	chr12:118620314-118620325
41	CEBPB	chr12:118620125-118620471	K562	blood:	n/a	chr12:118620314-118620325
42	CEBPB	chr12:118620129-118620488	HepG2	liver:	n/a	chr12:118620314-118620325
43	CEBPB	chr12:118620125-118620479	A549	lung:	n/a	chr12:118620314-118620325
44	CEBPB	chr12:118620133-118620394	ECC-1	luminal epithelium:	n/a	chr12:118620314-118620325
45	CEBPB	chr12:118620107-118620486	Hela-S3	cervix:	n/a	chr12:118620314-118620325
46	CEBPB	chr12:118576483-118576880	HepG2	liver:	n/a	n/a
47	CEBPB	chr12:118606111-118606311	A549	lung:	n/a	n/a
48	CEBPB	chr12:118620018-118620423	A549	lung:	n/a	chr12:118620314-118620325
49	CEBPB	chr12:118576459-118576860	HepG2	liver:	n/a	n/a
50	CEBPB	chr12:118620115-118620488	IMR90	lung:	n/a	chr12:118620314-118620325

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118588929-118588979	AG10803	skin:	n/a
2	chr12:118577336-118577386	SAEC	small airway:	n/a
3	chr12:118583290-118583340	HNPCEpiC	eye:	n/a
4	chr12:118583290-118583340	HCF	heart:	n/a
5	chr12:118575033-118575083	MCF10A-Er-Src	breast:	n/a
6	chr12:118588556-118588606	MCF-7	breast:	n/a
7	chr12:118588556-118588606	HL-60	blood:	n/a
8	chr12:118589087-118589137	LNCaP	prostate:	n/a
9	chr12:118583229-118583279	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:118583290-118583340	PFSK-1	brain:	n/a
11	chr12:118583290-118583340	NHDF-neo	bronchial:	n/a
12	chr12:118620216-118620266	ECC-1	luminal epithelium:	n/a
13	chr12:118588556-118588606	HCPEpiC	choroid plexus:	n/a
14	chr12:118589026-118589076	SKMC	muscle:	n/a
15	chr12:118577336-118577386	SK-N-MC	brain:	n/a
16	chr12:118575033-118575083	SK-N-MC	brain:	n/a
17	chr12:118577336-118577386	NHDF-neo	bronchial:	n/a
18	chr12:118583290-118583340	CMK	blood:	n/a
19	chr12:118589026-118589076	Hela-S3	cervix:	n/a
20	chr12:118583229-118583279	HMEC	breast:	n/a
21	chr12:118589087-118589137	Hela-S3	cervix:	n/a
22	chr12:118575033-118575083	AG09309	skin:	n/a
23	chr12:118589087-118589137	A549	lung:	n/a
24	chr12:118577336-118577386	NH-A	brain:	n/a
25	chr12:118589026-118589076	MCF-7	breast:	n/a
26	chr12:118589026-118589076	PrEC	prostate:	n/a
27	chr12:118588929-118588979	GM12878	blood:	n/a
28	chr12:118577336-118577386	HRPEpiC	eye:	n/a
29	chr12:118627943-118627993	HL-60	blood:	n/a
30	chr12:118620216-118620266	AG10803	skin:	n/a
31	chr12:118583290-118583340	GM12891	blood:	n/a
32	chr12:118588556-118588606	PANC-1	pancreas:	n/a
33	chr12:118583242-118583292	ProgFib	skin:	n/a
34	chr12:118583290-118583340	A549	lung:	n/a
35	chr12:118620216-118620266	GM12891	blood:	n/a
36	chr12:118577336-118577386	ProgFib	skin:	n/a
37	chr12:118583290-118583340	PrEC	prostate:	n/a
38	chr12:118588556-118588606	H1-hESC	embryonic stem cell:	embryo
39	chr12:118577336-118577386	PANC-1	pancreas:	n/a
40	chr12:118583290-118583340	HRPEpiC	eye:	n/a
41	chr12:118575033-118575083	GM12892	blood:	n/a
42	chr12:118583242-118583292	BE2_C	brain:	n/a
43	chr12:118589087-118589137	NHDF-neo	bronchial:	n/a
44	chr12:118575033-118575083	AG10803	skin:	n/a
45	chr12:118575033-118575083	HRPEpiC	eye:	n/a
46	chr12:118588556-118588606	NH-A	brain:	n/a
47	chr12:118588929-118588979	BE2_C	brain:	n/a
48	chr12:118588929-118588979	Hela-S3	cervix:	n/a
49	chr12:118588556-118588606	HEEpiC	esophagus:	n/a
50	chr12:118588929-118588979	AG04449	skin:	fetal

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:118558430..118559056-chr12:118602563..118603381,3	MCF-7	breast:
2	chr12:118580920..118583677-chr12:118588171..118589685,2	K562	blood:
3	chr12:118573812..118576177-chr12:118596570..118599987,3	K562	blood:
4	chr12:118573153..118575288-chr12:118813964..118815499,2	K562	blood:
5	chr12:118620907..118623414-chr12:118626921..118629279,2	K562	blood:
6	chr12:118585664..118587231-chr12:118640737..118643618,2	K562	blood:
7	chr12:118619933..118620906-chr12:118812675..118813644,2	K562	blood:
8	chr12:118595160..118597623-chr12:118597747..118599372,2	MCF-7	breast:
9	chr12:118621945..118622509-chr12:118813550..118814054,2	K562	blood:
10	chr12:118587155..118589565-chr12:118812730..118814697,2	K562	blood:
11	chr12:118498765..118502129-chr12:118621622..118623840,3	K562	blood:
12	chr12:118606761..118609389-chr12:118613397..118615983,2	MCF-7	breast:
13	chr12:118618995..118624149-chr12:118809534..118814465,7	K562	blood:
14	chr12:118581014..118583408-chr12:118584160..118586129,2	K562	blood:
15	chr12:118481881..118483634-chr12:118588470..118590195,2	MCF-7	breast:
16	chr12:118540349..118541952-chr12:118580918..118583878,2	MCF-7	breast:
17	chr12:118577698..118580180-chr12:118811113..118813216,2	MCF-7	breast:
18	chr12:118607954..118611154-chr12:118618350..118620487,3	MCF-7	breast:
19	chr12:118621252..118623142-chr12:118808957..118811612,2	K562	blood:
20	chr12:118587989..118589650-chr12:118590135..118591829,2	MCF-7	breast:
21	chr12:118616609..118618559-chr12:118621695..118624437,2	K562	blood:
22	chr12:118587254..118590333-chr12:118591083..118593849,3	K562	blood:
23	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:
24	chr12:118618991..118620730-chr12:118813556..118814542,16	MCF-7	breast:
25	chr12:118620159..118620747-chr12:118814583..118815397,2	MCF-7	breast:
26	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
27	chr12:118626372..118631667-chr12:118631943..118636287,5	K562	blood:
28	chr12:118632071..118634758-chr12:118814095..118816162,2	MCF-7	breast:
29	chr12:118624725..118626657-chr12:118814280..118815876,2	K562	blood:
30	chr12:118602929..118605254-chr12:118810718..118812251,2	K562	blood:
31	chr12:118619511..118620730-chr12:118813675..118814689,5	K562	blood:
32	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
33	chr12:118582911..118584770-chr12:118584900..118587466,2	MCF-7	breast:
34	chr12:118596371..118598245-chr12:118599433..118601239,2	K562	blood:
35	chr12:118587720..118589870-chr12:118590427..118592560,2	K562	blood:
36	chr12:118592379..118594446-chr12:118829106..118831111,2	MCF-7	breast:
37	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
38	chr12:118581014..118583408-chr12:118584160..118586129,2	K562	blood:
39	chr12:118591162..118593409-chr12:118596850..118598806,2	K562	blood:
40	chr12:118602518..118604035-chr12:118606751..118609682,2	MCF-7	breast:
41	chr12:118602901..118604685-chr12:118608153..118610570,2	K562	blood:
42	chr12:118630878..118633154-chr12:118640207..118642397,2	K562	blood:
43	chr12:118596811..118599066-chr12:118602668..118604454,2	MCF-7	breast:
44	chr12:118602518..118604035-chr12:118606751..118609682,2	MCF-7	breast:
45	chr12:118619835..118621020-chr12:118813249..118814536,8	MCF-7	breast:
46	chr12:118623962..118626821-chr12:118810133..118812850,4	MCF-7	breast:
47	chr12:118606761..118609389-chr12:118613397..118615983,2	MCF-7	breast:
48	chr12:118613530..118616835-chr12:118807216..118810760,3	MCF-7	breast:
49	chr12:118598981..118601040-chr12:118601052..118602863,2	MCF-7	breast:
50	chr12:118607954..118611154-chr12:118618350..118620487,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSIG10-1	chr12:118612199-118612678	ENSG00000249477
2	lnc-VSIG10-2	chr12:118633213-118633590	expReg_chr12_10373_-
3	lnc-VSIG10-1	chr12:118613267-118614556	ENSG00000249477

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PEBP1	hsa-miR-224-5p	chr12:118582748-118582754
2	PEBP1	hsa-miR-224-5p	chr12:118582735-118582755

Variant related genes	Relation type
TAOK3	TF binding region
ENSG00000221280	TF binding region
VSIG10	TF binding region
PEBP1	TF binding region
TAOK3	CpG island
ENSG00000221280	CpG island
VSIG10	CpG island
PEBP1	CpG island
ENSG00000221280	chromatin interactions
ENSG00000176871	chromatin interactions
ENSG00000176834	chromatin interactions
ENSG00000111707	chromatin interactions
ENSG00000135090	chromatin interactions
ENSG00000270482	chromatin interactions
ENSG00000089220	chromatin interactions

Extended variants
information (count: 2171 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2171 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560812437	chr12:118575010-118575011	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs551727334	chr12:118575022-118575023	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs116807243	chr12:118575031-118575032	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs532723894	chr12:118575054-118575055	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs534376352	chr12:118575057-118575058	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs2088702	chr12:118575096-118575097	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs143781117	chr12:118575097-118575098	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs536846756	chr12:118575141-118575142	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs557248153	chr12:118575161-118575162	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs142776665	chr12:118575197-118575198	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs186166187	chr12:118575205-118575206	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs563115549	chr12:118575211-118575212	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs552525899	chr12:118575274-118575275	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs558948317	chr12:118575283-118575284	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs75514589	chr12:118575329-118575330	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs548654596	chr12:118575352-118575353	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs35797404	chr12:118575365-118575366	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs190191476	chr12:118575376-118575377	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs76695200	chr12:118575416-118575417	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs564032625	chr12:118575420-118575421	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs555883701	chr12:118575525-118575526	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs11068844	chr12:118575566-118575567	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370739519	chr12:118575628-118575629	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs558879156	chr12:118575659-118575660	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs528075595	chr12:118575680-118575681	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs547924287	chr12:118575692-118575693	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs527649071	chr12:118575699-118575700	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs147190541	chr12:118575703-118575704	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs111896308	chr12:118575706-118575707	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs550467325	chr12:118575762-118575763	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs138943811	chr12:118575857-118575858	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs373019765	chr12:118575869-118575870	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs199837201	chr12:118575902-118575903	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs181898300	chr12:118575906-118575907	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs377559254	chr12:118575921-118575922	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs372914075	chr12:118575968-118575969	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs201510735	chr12:118575971-118575972	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs566118063	chr12:118576004-118576005	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs534999990	chr12:118576018-118576019	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs555130283	chr12:118576043-118576044	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs367683630	chr12:118576075-118576076	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs574811133	chr12:118576097-118576098	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs544009788	chr12:118576130-118576131	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs140515601	chr12:118576171-118576172	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs577472169	chr12:118576188-118576189	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs546137948	chr12:118576212-118576213	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs113759899	chr12:118576285-118576286	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs528112219	chr12:118576328-118576329	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs538578038	chr12:118576349-118576350	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs564493063	chr12:118576362-118576363	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:2436 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118572600-118575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:118572600-118575400	Active TSS	A549	lung
3	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:118572800-118575000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:118572800-118575000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:118572800-118575000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:118572800-118575000	Active TSS	Brain Anterior Caudate	brain
8	chr12:118572800-118575000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:118572800-118575000	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:118572800-118575400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr12:118572800-118575400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:118572800-118575400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:118572800-118575400	Active TSS	HSMM	muscle
14	chr12:118572800-118575400	Active TSS	NHDF-Ad	bronchial
15	chr12:118572800-118575400	Active TSS	NHLF	lung
16	chr12:118572800-118575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:118573000-118575000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:118573000-118575000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:118573000-118575000	Active TSS	GM12878-XiMat	blood
20	chr12:118573000-118575200	Active TSS	Ovary	ovary
21	chr12:118573000-118575400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:118573000-118575400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr12:118573200-118575000	Active TSS	Brain Angular Gyrus	brain
24	chr12:118573200-118575000	Active TSS	Fetal Muscle Trunk	muscle
25	chr12:118573200-118575000	Active TSS	HMEC	breast
26	chr12:118573200-118575200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:118573200-118575200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:118573200-118575200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:118573200-118575200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:118573200-118575200	Active TSS	Brain Hippocampus Middle	brain
31	chr12:118573200-118575200	Active TSS	Fetal Intestine Large	intestine
32	chr12:118573200-118575200	Active TSS	Fetal Kidney	kidney
33	chr12:118573200-118575200	Active TSS	Pancreas	Pancrea
34	chr12:118573200-118575200	Active TSS	Psoas Muscle	Psoas
35	chr12:118573200-118575400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr12:118573200-118575400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:118573200-118575400	Active TSS	Esophagus	oesophagus
38	chr12:118573200-118575400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr12:118573200-118575400	Active TSS	Right Atrium	heart
40	chr12:118573400-118575000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:118573400-118575000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:118573400-118575000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:118573400-118575000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:118573400-118575000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr12:118573400-118575000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:118573400-118575000	Active TSS	Brain Cingulate Gyrus	brain
47	chr12:118573400-118575000	Active TSS	Brain Substantia Nigra	brain
48	chr12:118573400-118575000	Active TSS	HSMMtube	muscle
49	chr12:118573400-118575000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:118573400-118575200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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