Variant report

Variant	rs4931480
Chromosome Location	chr12:31468842-31468843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31466525..31469496-chr3:13426549..13428375,2	K562	blood:
2	chr12:31455632..31457887-chr12:31467891..31469467,2	MCF-7	breast:
3	chr12:31462575..31464731-chr12:31467924..31470498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256176	Chromatin interaction
ENSG00000238661	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11832022	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11836520	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12303025	0.82[EUR][1000 genomes]
rs17576150	0.88[ASN][1000 genomes]
rs17603947	0.89[ASN][1000 genomes]
rs1844986	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1992066	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1992067	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2374000	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4930974	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7138117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9971805	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	esv2751053	chr12:31225710-31484881	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv2754121	chr12:31225710-31493435	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv2751054	chr12:31225710-31513718	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
11	esv35092	chr12:31239600-31484833	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	esv2751071	chr12:31239600-31493435	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	esv2751072	chr12:31239600-31499671	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
14	nsv430477	chr12:31239600-31513718	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	esv2751077	chr12:31278031-31499671	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 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	chr12:31428600-31470000	Weak transcription	Small Intestine	intestine
2	chr12:31433000-31470200	Weak transcription	Stomach Mucosa	stomach
3	chr12:31440800-31470000	Weak transcription	Fetal Lung	lung
4	chr12:31446600-31470000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:31449800-31472800	Weak transcription	Pancreas	Pancrea
6	chr12:31450000-31471000	Weak transcription	Esophagus	oesophagus
7	chr12:31451000-31470400	Weak transcription	Colonic Mucosa	Colon
8	chr12:31455200-31469800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:31457200-31469800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:31457600-31475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:31457800-31470200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:31458000-31469800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:31458000-31470600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:31458000-31471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:31458200-31470000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:31458200-31470200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:31458200-31470400	Weak transcription	Liver	Liver
18	chr12:31458200-31470600	Weak transcription	HSMMtube	muscle
19	chr12:31458400-31469600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:31458400-31469800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:31458400-31469800	Weak transcription	HSMM	muscle
22	chr12:31458400-31470000	Weak transcription	Thymus	Thymus
23	chr12:31458400-31470400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:31458400-31470400	Weak transcription	Fetal Stomach	stomach
25	chr12:31458400-31470600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:31459800-31470200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:31460400-31476000	Weak transcription	Lung	lung
28	chr12:31460600-31471800	Weak transcription	Gastric	stomach
29	chr12:31461600-31470200	Weak transcription	NH-A	brain
30	chr12:31461800-31470200	Weak transcription	NHEK	skin
31	chr12:31462400-31470800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:31462600-31470400	Weak transcription	Fetal Brain Female	brain
33	chr12:31463200-31472200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:31464600-31472200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:31465400-31470000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:31465800-31469000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:31466800-31470000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:31467400-31470000	Weak transcription	Fetal Intestine Small	intestine
39	chr12:31467600-31469000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:31467600-31469000	Enhancers	Ovary	ovary
41	chr12:31467600-31469200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:31467600-31469200	Enhancers	HMEC	breast
43	chr12:31467600-31469800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:31467600-31469800	Enhancers	Primary B cells from cord blood	blood
45	chr12:31467600-31469800	Enhancers	Primary T cells from cord blood	blood
46	chr12:31467600-31469800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:31467600-31470000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:31467600-31470200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:31467600-31470200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr12:31467600-31470600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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