Variant report

Variant	rs4667262
Chromosome Location	chr2:189969589-189969590
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189969228..189971711-chr2:189972340..189974261,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10166301	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2229495	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3923384	1.00[CEU][hapmap]
rs4128539	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4666772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6414122	1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6434312	1.00[CEU][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes]
rs7419570	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7556733	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv3074	chr2:189931263-189976124	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189933000-189980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189941200-189975000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189947600-189980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:189948200-189980600	Weak transcription	Placenta	Placenta
6	chr2:189948600-189974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:189950800-189977800	Weak transcription	Fetal Intestine Large	intestine
8	chr2:189954800-189980400	Weak transcription	Ovary	ovary
9	chr2:189958200-189981000	Weak transcription	Fetal Stomach	stomach
10	chr2:189960200-189973800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:189960400-189974400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:189962200-189973600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:189962400-189995200	Weak transcription	Aorta	Aorta
14	chr2:189962600-189969800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:189962600-189978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:189962600-189980600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:189962800-189969800	Weak transcription	HUVEC	blood vessel
18	chr2:189963000-189970800	Weak transcription	NHLF	lung
19	chr2:189963200-189969800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:189963400-189970000	Weak transcription	Adipose Nuclei	Adipose
21	chr2:189963800-189973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:189965200-189972600	Weak transcription	NH-A	brain
23	chr2:189966400-189974600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:189967000-189969600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:189967400-189969800	Genic enhancers	A549	lung
26	chr2:189967600-189969800	Strong transcription	NHDF-Ad	bronchial
27	chr2:189968200-189969800	Strong transcription	HSMM	muscle
28	chr2:189968200-189972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:189968400-189972600	Weak transcription	Fetal Lung	lung
30	chr2:189968600-189977800	Weak transcription	HSMMtube	muscle
31	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:189968800-189973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:189969000-189969600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:189969000-189970000	Weak transcription	Osteobl	bone
35	chr2:189969000-189973400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:189969000-189980000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:189969200-189970200	Enhancers	Liver	Liver
38	chr2:189969400-189969600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:189969400-189969600	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr2:189969400-189969800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:189969400-189970800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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