Variant report

Variant	rs531168501
Chromosome Location	chr12:49183360-49183361
allele	A/T
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	MAX	chr12:49182357-49183714	HepG2	liver:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
3	TCF12	chr12:49182758-49183989	A549	lung:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
4	TCF12	chr12:49183295-49183597	GM12878	blood:	n/a	chr12:49183484-49183494 chr12:49183470-49183477
5	POLR2A	chr12:49183356-49183557	A549	lung:	n/a	n/a
6	YY1	chr12:49182754-49183686	HepG2	liver:	n/a	chr12:49183529-49183540 chr12:49183169-49183180 chr12:49182856-49182867
7	POLR2A	chr12:49183280-49183581	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:49183360-49183510	Hela-S3	cervix:	n/a	chr12:49183413-49183426
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	ZBTB7A	chr12:49182077-49183971	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
12	E2F4	chr12:49183264-49183586	MCF10A-Er-Src	breast:	n/a	n/a
13	TAF1	chr12:49182245-49183915	ECC-1	luminal epithelium:	n/a	n/a
14	HEY1	chr12:49183231-49183595	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:49183277-49183683	HCT-116	colon:	n/a	n/a
16	POLR2A	chr12:49183242-49183697	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr12:49182459-49183675	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:49183351-49183559	A549	lung:	n/a	n/a
19	SMARCB1	chr12:49181576-49183529	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr12:49183312-49183501	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr12:49182286-49183962	ECC-1	luminal epithelium:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
22	POLR2A	chr12:49183357-49183683	HepG2	liver:	n/a	n/a
23	CTCF	chr12:49183340-49183490	BJ	skin:	n/a	chr12:49183413-49183426
24	POLR2A	chr12:49183335-49183537	HUVEC	blood vessel:	n/a	n/a
25	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr12:49183360-49183510	HEEpiC	esophagus:	n/a	chr12:49183413-49183426
27	CTCF	chr12:49183340-49183490	HMEC	breast:	n/a	chr12:49183413-49183426
28	POLR2A	chr12:49183298-49183615	Hela-S3	cervix:	n/a	n/a
29	REST	chr12:49182184-49183944	H1-neurons	neurons:	n/a	n/a
30	ZBTB33	chr12:49183329-49183510	HepG2	liver:	n/a	chr12:49183417-49183432
31	TCF12	chr12:49182530-49183623	ECC-1	luminal epithelium:	n/a	chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
32	CTCF	chr12:49183240-49183490	BJ	skin:	n/a	chr12:49183413-49183426
33	POLR2A	chr12:49182109-49183722	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr12:49183340-49183490	Caco-2	colon:	n/a	chr12:49183413-49183426
35	PBX3	chr12:49183343-49183474	GM12878	blood:	n/a	n/a
36	E2F6	chr12:49183207-49183685	A549	lung:	n/a	chr12:49183592-49183602
37	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
38	CHD2	chr12:49183261-49183594	HepG2	liver:	n/a	n/a
39	EP300	chr12:49183282-49183589	HepG2	liver:	n/a	chr12:49183411-49183427
40	EBF1	chr12:49183295-49183564	GM12878	blood:	n/a	n/a
41	TCF12	chr12:49182272-49183741	ECC-1	luminal epithelium:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
42	CTCF	chr12:49183360-49183510	MCF-7	breast:	n/a	chr12:49183413-49183426
43	CTCF	chr12:49183358-49183496	MCF-7	breast:	n/a	chr12:49183413-49183426
44	PAX5	chr12:49183338-49183557	GM12878	blood:	n/a	n/a
45	ZBTB7A	chr12:49183122-49183444	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:49182611-49183603	GM19099	blood:	n/a	n/a
47	POLR2A	chr12:49183268-49183701	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:49183320-49183470	SAEC	small airway:	n/a	chr12:49183413-49183426
49	MAZ	chr12:49182690-49183588	GM12878	blood:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
50	POLR2A	chr12:49183270-49183663	GM18951	blood:	n/a	n/a

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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNB3-1	chr12:49183359-49183473	ENSG00000257660

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000167535	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000257653	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000207467	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:115 , 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	chr12:49181800-49183400	Active TSS	Ovary	ovary
9	chr12:49181800-49183600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:49181800-49183600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:49181800-49183600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:49181800-49183600	Active TSS	Left Ventricle	heart
13	chr12:49181800-49183600	Active TSS	NHLF	lung
14	chr12:49181800-49183800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:49181800-49183800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:49181800-49183800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:49181800-49183800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:49181800-49183800	Active TSS	Brain Angular Gyrus	brain
19	chr12:49181800-49183800	Active TSS	Fetal Intestine Large	intestine
20	chr12:49181800-49183800	Active TSS	Gastric	stomach
21	chr12:49181800-49183800	Active TSS	Right Atrium	heart
22	chr12:49181800-49183800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr12:49181800-49184000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:49181800-49184000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:49182000-49183400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:49182000-49183600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:49182000-49183600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:49182000-49183600	Active TSS	Brain Germinal Matrix	brain
30	chr12:49182000-49183600	Active TSS	Colonic Mucosa	Colon
31	chr12:49182000-49183600	Active TSS	Lung	lung
32	chr12:49182000-49183600	Active TSS	Pancreas	Pancrea
33	chr12:49182000-49183600	Active TSS	Stomach Mucosa	stomach
34	chr12:49182000-49183600	Active TSS	HepG2	liver
35	chr12:49182000-49183600	Active TSS	Osteobl	bone
36	chr12:49182000-49183800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr12:49182000-49183800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:49182000-49183800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:49182000-49183800	Active TSS	NH-A	brain
40	chr12:49182000-49183800	Active TSS	NHDF-Ad	bronchial
41	chr12:49182000-49184000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:49182000-49184200	Active TSS	Brain Substantia Nigra	brain
43	chr12:49182200-49183400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:49182200-49183400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:49182200-49183400	Active TSS	Placenta Amnion	Placenta Amnion
46	chr12:49182200-49183600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:49182200-49183600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:49182200-49183600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:49182200-49183600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:49182200-49183600	Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links