Variant report

Variant	rs7592439
Chromosome Location	chr2:189971040-189971041
allele	C/G
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: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10165260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10176287	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10194618	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3923384	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4128538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4666770	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4667268	0.81[JPT][hapmap]
rs6434322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6717231	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6750027	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7420715	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7422106	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7422861	0.81[EUR][1000 genomes]
rs7423494	0.82[AMR][1000 genomes]
rs7424947	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7426169	0.81[YRI][hapmap]
rs7558610	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7592230	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[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	chr2:189962600-189978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:189962600-189980600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:189963800-189973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:189965200-189972600	Weak transcription	NH-A	brain
18	chr2:189966400-189974600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:189968200-189972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:189968400-189972600	Weak transcription	Fetal Lung	lung
21	chr2:189968600-189977800	Weak transcription	HSMMtube	muscle
22	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:189968800-189973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:189969000-189973400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:189969000-189980000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:189969800-189972800	Genic enhancers	NHDF-Ad	bronchial
27	chr2:189970000-189971400	Enhancers	Osteobl	bone
28	chr2:189970000-189972000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:189970200-189971800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:189970200-189972000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:189970200-189972000	Genic enhancers	A549	lung
32	chr2:189970200-189972200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:189970200-189973000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:189970200-189973600	Weak transcription	Adipose Nuclei	Adipose
35	chr2:189970200-189974400	Weak transcription	Liver	Liver
36	chr2:189970200-189974800	Weak transcription	Fetal Kidney	kidney
37	chr2:189970200-189974800	Weak transcription	HUVEC	blood vessel
38	chr2:189970800-189971600	Enhancers	NHLF	lung
39	chr2:189971000-189971200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:189971000-189971400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:189971000-189978200	Strong transcription	HSMM	muscle

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