Variant report

Variant	rs7137837
Chromosome Location	chr12:121613046-121613047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121612772..121615002-chr12:121621675..121623747,2	K562	blood:
2	chr12:121602385..121605208-chr12:121610974..121613689,2	MCF-7	breast:
3	chr12:121612601..121615211-chr12:121633232..121635825,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10160951	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs12301635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12304035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12321707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12815078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12821688	0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1653583	0.82[CHB][hapmap]
rs1718124	0.82[CHB][hapmap]
rs1718161	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718162	0.82[CHB][hapmap]
rs2051551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs208288	0.82[CHB][hapmap]
rs208310	1.00[CHB][hapmap]
rs2686371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2686385	0.80[AMR][1000 genomes]
rs2857588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2857589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34405253	0.97[ASN][1000 genomes]
rs34481602	0.91[ASN][1000 genomes]
rs535557	0.82[CHB][hapmap]
rs568531	0.82[CHB][hapmap]
rs607094	0.82[CHB][hapmap]
rs66850672	0.97[ASN][1000 genomes]
rs7137542	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs73220272	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
3	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
9	chr12:121596000-121614800	Weak transcription	Gastric	stomach
10	chr12:121596200-121622200	Weak transcription	Esophagus	oesophagus
11	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
13	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:121599000-121617200	Weak transcription	Fetal Stomach	stomach
16	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
17	chr12:121603800-121623600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:121604000-121615800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:121604200-121613200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:121604200-121613200	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:121604200-121613800	Weak transcription	Adipose Nuclei	Adipose
22	chr12:121604200-121614600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:121604200-121619800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:121604400-121613200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:121604400-121614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:121604400-121622200	Weak transcription	Lung	lung
27	chr12:121605000-121623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:121605400-121613600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:121605400-121615000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:121606200-121614600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:121606600-121614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:121609200-121613200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:121609200-121613200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:121609200-121613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:121610200-121613200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:121610400-121614400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:121610600-121614600	Weak transcription	HUVEC	blood vessel
38	chr12:121610800-121628800	Weak transcription	Right Atrium	heart
39	chr12:121611200-121614200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:121611200-121614200	Enhancers	Ovary	ovary
41	chr12:121611400-121613200	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:121611400-121614200	Enhancers	Brain Angular Gyrus	brain
43	chr12:121611600-121613800	Weak transcription	Pancreas	Pancrea
44	chr12:121611800-121613200	Weak transcription	Brain Anterior Caudate	brain
45	chr12:121611800-121614400	Weak transcription	Liver	Liver
46	chr12:121611800-121614600	Weak transcription	Spleen	Spleen
47	chr12:121612200-121617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:121612400-121613600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:121612400-121615400	Strong transcription	Primary T cells from cord blood	blood
50	chr12:121612400-121615400	Genic enhancers	Brain Inferior Temporal Lobe	brain

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