Variant report

Variant	rs191590777
Chromosome Location	chr12:31079399-31079400
allele	C/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	POLR2A	chr12:31079288-31079684	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:31079204-31079653	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:31079340-31079490	AG09319	gingival:	n/a	n/a
4	MAX	chr12:31079074-31080355	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
5	CTCF	chr12:31079340-31079490	BJ	skin:	n/a	n/a
6	MXI1	chr12:31078809-31079564	H1-hESC	embryonic stem cell:	n/a	chr12:31079353-31079368
7	POLR2A	chr12:31079076-31079675	H1-neurons	neurons:	n/a	n/a
8	CTBP2	chr12:31078500-31079604	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:31079340-31079490	HMEC	breast:	n/a	n/a
10	MAX	chr12:31079219-31079709	HepG2	liver:	n/a	n/a
11	SIN3A	chr12:31078898-31079751	H1-hESC	embryonic stem cell:	n/a	chr12:31079579-31079592 chr12:31079650-31079661 chr12:31079280-31079291 chr12:31079518-31079529 chr12:31079368-31079379
12	MAX	chr12:31079099-31079576	SK-N-SH	brain:	n/a	chr12:31079154-31079164
13	MAX	chr12:31079101-31080426	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
14	CTCF	chr12:31079340-31079490	HepG2	liver:	n/a	n/a
15	TBP	chr12:31079193-31079706	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:31078945-31080180	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:31079275-31079499	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr12:31078930-31080600	H1-neurons	neurons:	n/a	chr12:31079230-31079243 chr12:31080511-31080524 chr12:31079478-31079496 chr12:31079273-31079283 chr12:31079636-31079649 chr12:31080050-31080063
19	CTCF	chr12:31079360-31079510	RPTEC	kidney:	n/a	n/a
20	CTCF	chr12:31079320-31079470	HRE	kidney:	n/a	n/a
21	TAF1	chr12:31079091-31079768	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr12:31079380-31079530	HAc	cerebellar:	n/a	n/a
23	MXI1	chr12:31079119-31079802	IMR90	lung:	n/a	chr12:31079353-31079368
24	POLR2A	chr12:31079198-31079556	SK-N-SH	brain:	n/a	n/a
25	ZNF263	chr12:31079392-31080459	HEK293-T-REx	kidney:	n/a	chr12:31079622-31079631
26	POLR2A	chr12:31079097-31080311	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:31078957-31079635	H1-neurons	neurons:	n/a	n/a
28	E2F6	chr12:31079119-31079669	H1-hESC	embryonic stem cell:	n/a	chr12:31079338-31079347 chr12:31079502-31079512 chr12:31079501-31079511
29	MAX	chr12:31079118-31079641	SK-N-SH	brain:	n/a	chr12:31079154-31079164
30	GTF2F1	chr12:31079222-31079571	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr12:31079223-31079589	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr12:31079360-31079510	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr12:31079260-31079599	HepG2	liver:	n/a	n/a
34	E2F6	chr12:31079061-31080402	H1-hESC	embryonic stem cell:	n/a	chr12:31079817-31079826 chr12:31079338-31079347 chr12:31079502-31079512 chr12:31079501-31079511
35	POLR2A	chr12:31079233-31079674	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr12:31079360-31079510	HRPEpiC	eye:	n/a	n/a
37	JUND	chr12:31079056-31079520	H1-hESC	embryonic stem cell:	n/a	chr12:31079339-31079348
38	MXI1	chr12:31078649-31082379	SK-N-SH	brain:	n/a	chr12:31081271-31081286 chr12:31079353-31079368
39	MYC	chr12:31078979-31079572	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
40	CEBPB	chr12:31079297-31079429	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:31079051-31079533	SK-N-MC	brain:	n/a	n/a
42	ZNF143	chr12:31079282-31079408	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:31078506-31080634	SK-N-MC	brain:	n/a	n/a
44	MAX	chr12:31079172-31079572	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr12:31079380-31079530	AG09319	gingival:	n/a	n/a
46	POLR2A	chr12:31079388-31079757	HUVEC	blood vessel:	n/a	n/a
47	CHD2	chr12:31078905-31079452	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:31079320-31079470	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
TSPAN11	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv1051648	chr12:31069125-31103671	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2422366	chr12:31071959-31276836	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv658	chr12:31072400-31108649	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3431172	chr12:31078685-31080783	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31078400-31080000	Enhancers	Fetal Heart	heart
2	chr12:31078800-31079400	Flanking Active TSS	Brain Cingulate Gyrus	brain
3	chr12:31078800-31079400	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr12:31078800-31079400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
5	chr12:31078800-31080000	Active TSS	Fetal Kidney	kidney
6	chr12:31078800-31080600	Enhancers	Spleen	Spleen
7	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:31079000-31079400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr12:31079000-31079400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:31079000-31079400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:31079000-31079400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr12:31079000-31079400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr12:31079000-31079400	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
19	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr12:31079000-31079400	Flanking Active TSS	HUVEC	blood vessel
24	chr12:31079000-31079400	Flanking Bivalent TSS/Enh	Osteobl	bone
25	chr12:31079000-31079600	Active TSS	Gastric	stomach
26	chr12:31079000-31079800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:31079000-31079800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:31079000-31079800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:31079000-31079800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:31079000-31079800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
31	chr12:31079000-31079800	Enhancers	Fetal Brain Male	brain
32	chr12:31079000-31079800	Active TSS	Ovary	ovary
33	chr12:31079000-31079800	Active TSS	HSMMtube	muscle
34	chr12:31079000-31080000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr12:31079000-31080000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:31079000-31080000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr12:31079000-31080000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:31079000-31080000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:31079000-31080000	Bivalent Enhancer	Liver	Liver
40	chr12:31079000-31080000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
41	chr12:31079000-31080000	Bivalent Enhancer	Placenta	Placenta
42	chr12:31079000-31080000	Flanking Bivalent TSS/Enh	HMEC	breast
43	chr12:31079000-31080000	Active TSS	HSMM	muscle
44	chr12:31079000-31080200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr12:31079000-31080200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:31079000-31080200	Bivalent Enhancer	Fetal Thymus	thymus
47	chr12:31079000-31080400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr12:31079000-31080800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
49	chr12:31079200-31079400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:31079200-31079400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links