Variant report

Variant	rs547890174
Chromosome Location	chr12:49183556-49183557
allele	C/G
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	CHD2	chr12:49182327-49183683	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:49183422-49183572	A549	lung:	n/a	n/a
3	MAX	chr12:49182357-49183714	HepG2	liver:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
4	TCF12	chr12:49182758-49183989	A549	lung:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
5	TCF12	chr12:49183295-49183597	GM12878	blood:	n/a	chr12:49183484-49183494 chr12:49183470-49183477
6	POLR2A	chr12:49183356-49183557	A549	lung:	n/a	n/a
7	YY1	chr12:49182754-49183686	HepG2	liver:	n/a	chr12:49183529-49183540 chr12:49183169-49183180 chr12:49182856-49182867
8	POLR2A	chr12:49183280-49183581	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:49183336-49183569	HepG2	liver:	n/a	n/a
10	MAX	chr12:49182217-49183991	A549	lung:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
11	POLR2A	chr12:49183365-49183682	HCT-116	colon:	n/a	n/a
12	ZBTB7A	chr12:49182077-49183971	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
13	MAZ	chr12:49183540-49184016	Hela-S3	cervix:	n/a	n/a
14	E2F4	chr12:49183264-49183586	MCF10A-Er-Src	breast:	n/a	n/a
15	TAF1	chr12:49182245-49183915	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr12:49183440-49183590	AG04449	skin:	n/a	n/a
17	HEY1	chr12:49183231-49183595	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:49183277-49183683	HCT-116	colon:	n/a	n/a
19	POLR2A	chr12:49183242-49183697	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr12:49182459-49183675	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:49183351-49183559	A549	lung:	n/a	n/a
22	POLR2A	chr12:49183412-49183592	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr12:49183399-49183663	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:49183382-49183843	Hela-S3	cervix:	n/a	n/a
25	MAX	chr12:49182286-49183962	ECC-1	luminal epithelium:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
26	POLR2A	chr12:49183357-49183683	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:49183407-49183596	H1-hESC	embryonic stem cell:	n/a	n/a
28	ARID3A	chr12:49183368-49183584	HepG2	liver:	n/a	chr12:49183438-49183454
29	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a
30	ZNF143	chr12:49183427-49183573	GM12878	blood:	n/a	n/a
31	SIN3A	chr12:49183383-49183968	H1-hESC	embryonic stem cell:	n/a	chr12:49183413-49183424
32	SMC3	chr12:49183406-49183584	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:49183298-49183615	Hela-S3	cervix:	n/a	n/a
34	REST	chr12:49182184-49183944	H1-neurons	neurons:	n/a	n/a
35	TCF12	chr12:49182530-49183623	ECC-1	luminal epithelium:	n/a	chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
36	POLR2A	chr12:49182109-49183722	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr12:49183385-49183603	HepG2	liver:	n/a	n/a
38	MAZ	chr12:49183446-49183625	HepG2	liver:	n/a	n/a
39	E2F6	chr12:49183207-49183685	A549	lung:	n/a	chr12:49183592-49183602
40	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
41	CHD2	chr12:49183261-49183594	HepG2	liver:	n/a	n/a
42	EP300	chr12:49183282-49183589	HepG2	liver:	n/a	chr12:49183411-49183427
43	EBF1	chr12:49183295-49183564	GM12878	blood:	n/a	n/a
44	TCF12	chr12:49182272-49183741	ECC-1	luminal epithelium:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
45	HEY1	chr12:49183378-49183612	HepG2	liver:	n/a	n/a
46	PAX5	chr12:49183338-49183557	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:49182611-49183603	GM19099	blood:	n/a	n/a
48	POLR2A	chr12:49183268-49183701	H1-hESC	embryonic stem cell:	n/a	n/a
49	RCOR1	chr12:49183413-49183968	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr12:49182690-49183588	GM12878	blood:	n/a	chr12:49183263-49183273 chr12:49183055-49183065

No.	Distal block	Cell Line	Cell type
1	chr12:49074389..49076545-chr12:49180456..49183753,3	MCF-7	breast:
2	chr12:49175402..49178124-chr12:49180679..49183666,2	K562	blood:
3	chr12:49183065..49183767-chr12:49208148..49208948,2	MCF-7	breast:
4	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
5	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
6	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
7	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
8	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:
9	chr12:49158067..49160355-chr12:49182073..49184026,2	MCF-7	breast:

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000167535	Chromatin interaction
ENSG00000257653	Chromatin interaction
ENSG00000207467	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3409586	chr12:49181735-49184833	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
3	esv3359848	chr12:49182310-49184858	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
4	esv3421909	chr12:49183035-49184233	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49181200-49183800	Active TSS	Aorta	Aorta
2	chr12:49181400-49183600	Active TSS	HSMM	muscle
3	chr12:49181600-49183600	Active TSS	Fetal Heart	heart
4	chr12:49181600-49183600	Active TSS	Fetal Intestine Small	intestine
5	chr12:49181600-49183600	Active TSS	Rectal Smooth Muscle	rectum
6	chr12:49181600-49183800	Active TSS	Fetal Kidney	kidney
7	chr12:49181600-49184200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:49181800-49183600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:49181800-49183600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:49181800-49183600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:49181800-49183600	Active TSS	Left Ventricle	heart
12	chr12:49181800-49183600	Active TSS	NHLF	lung
13	chr12:49181800-49183800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:49181800-49183800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:49181800-49183800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:49181800-49183800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:49181800-49183800	Active TSS	Brain Angular Gyrus	brain
18	chr12:49181800-49183800	Active TSS	Fetal Intestine Large	intestine
19	chr12:49181800-49183800	Active TSS	Gastric	stomach
20	chr12:49181800-49183800	Active TSS	Right Atrium	heart
21	chr12:49181800-49183800	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr12:49181800-49184000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:49181800-49184000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:49182000-49183600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:49182000-49183600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:49182000-49183600	Active TSS	Brain Germinal Matrix	brain
28	chr12:49182000-49183600	Active TSS	Colonic Mucosa	Colon
29	chr12:49182000-49183600	Active TSS	Lung	lung
30	chr12:49182000-49183600	Active TSS	Pancreas	Pancrea
31	chr12:49182000-49183600	Active TSS	Stomach Mucosa	stomach
32	chr12:49182000-49183600	Active TSS	HepG2	liver
33	chr12:49182000-49183600	Active TSS	Osteobl	bone
34	chr12:49182000-49183800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:49182000-49183800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:49182000-49183800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:49182000-49183800	Active TSS	NH-A	brain
38	chr12:49182000-49183800	Active TSS	NHDF-Ad	bronchial
39	chr12:49182000-49184000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr12:49182000-49184200	Active TSS	Brain Substantia Nigra	brain
41	chr12:49182200-49183600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:49182200-49183600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr12:49182200-49183600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:49182200-49183600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:49182200-49183600	Active TSS	Brain Cingulate Gyrus	brain
46	chr12:49182200-49183600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr12:49182200-49183600	Active TSS	Esophagus	oesophagus
48	chr12:49182200-49183600	Active TSS	Fetal Brain Female	brain
49	chr12:49182200-49183600	Active TSS	Fetal Stomach	stomach
50	chr12:49182200-49183600	Active TSS	Rectal Mucosa Donor 31	rectum

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