Variant report

Variant	rs7606596
Chromosome Location	chr2:161047886-161047887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:161034766..161037717-chr2:161047419..161049441,2	MCF-7	breast:
2	chr2:161044639..161046175-chr2:161046319..161048023,2	MCF-7	breast:
3	chr2:161047148..161049457-chr2:161049468..161051501,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11890990	1.00[MEX][hapmap]
rs2357863	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2667034	1.00[MEX][hapmap]
rs2925764	1.00[MEX][hapmap]
rs2925765	1.00[MEX][hapmap];0.81[MKK][hapmap]
rs2966388	1.00[MEX][hapmap]
rs60103361	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6724949	1.00[MEX][hapmap]
rs6740955	0.82[YRI][hapmap]
rs72994797	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:161024000-161051000	Weak transcription	HSMMtube	muscle
2	chr2:161025600-161051000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:161027200-161051400	Weak transcription	Gastric	stomach
4	chr2:161029200-161051000	Weak transcription	HSMM	muscle
5	chr2:161029400-161063200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:161038200-161051200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:161038400-161050000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:161038400-161050400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:161038400-161051000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:161038400-161051000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:161038400-161051200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:161045200-161051000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:161045400-161051400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:161046800-161049600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:161047000-161049200	Strong transcription	HMEC	breast
16	chr2:161047200-161058800	Weak transcription	Psoas Muscle	Psoas
17	chr2:161047400-161048000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:161047400-161050000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:161047400-161053200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:161047600-161048400	Enhancers	Dnd41	blood
21	chr2:161047600-161048800	Weak transcription	NHEK	skin
22	chr2:161047800-161048200	Enhancers	Primary T cells from cord blood	blood

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