Variant report

Variant	rs6581757
Chromosome Location	chr12:67850925-67850926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67849296..67851766-chr12:68042448..68044741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10506549	0.84[GIH][hapmap]
rs1317854	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920431	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921001	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2870933	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870934	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35351458	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960669	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr12:67844600-67851600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67847200-67851400	Weak transcription	Right Atrium	heart
3	chr12:67849000-67852000	Enhancers	Fetal Heart	heart
4	chr12:67849200-67852200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:67849400-67851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:67849400-67851400	Weak transcription	Right Ventricle	heart
7	chr12:67849600-67851400	Enhancers	Adipose Nuclei	Adipose
8	chr12:67849800-67853800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:67850000-67851000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr12:67850000-67851400	Enhancers	NHLF	lung
11	chr12:67850000-67852000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:67850000-67852000	Enhancers	Fetal Lung	lung
13	chr12:67850000-67852200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:67850000-67852200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:67850000-67852400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:67850000-67852600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:67850000-67853200	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:67850200-67851000	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:67850200-67851000	Enhancers	Liver	Liver
20	chr12:67850200-67851200	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:67850200-67851200	Enhancers	HMEC	breast
22	chr12:67850200-67851200	Enhancers	NHEK	skin
23	chr12:67850200-67851400	Enhancers	Brain Germinal Matrix	brain
24	chr12:67850200-67851800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:67850200-67851800	Enhancers	HSMM	muscle
26	chr12:67850200-67852000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:67850200-67852000	Enhancers	Fetal Stomach	stomach
28	chr12:67850200-67852200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:67850200-67852200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:67850200-67852200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr12:67850200-67852200	Enhancers	GM12878-XiMat	blood
32	chr12:67850200-67852200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:67850200-67852400	Enhancers	NHDF-Ad	bronchial
34	chr12:67850200-67852400	Enhancers	Osteobl	bone
35	chr12:67850200-67853600	Enhancers	Psoas Muscle	Psoas
36	chr12:67850200-67853800	Enhancers	Ovary	ovary
37	chr12:67850200-67857800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:67850400-67851000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:67850400-67851000	Enhancers	Fetal Intestine Small	intestine
40	chr12:67850400-67851200	Enhancers	NH-A	brain
41	chr12:67850400-67851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:67850400-67852000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr12:67850400-67852200	Enhancers	Left Ventricle	heart
44	chr12:67850400-67852400	Enhancers	Fetal Muscle Leg	muscle
45	chr12:67850400-67852600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:67850400-67853400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:67850600-67851200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:67850600-67851400	Weak transcription	Placenta	Placenta
49	chr12:67850600-67851600	Enhancers	Stomach Smooth Muscle	stomach
50	chr12:67850600-67851800	Weak transcription	Aorta	Aorta

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