Variant report

Variant	rs4360582
Chromosome Location	chr1:217215465-217215466
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	chr1:217215201..217218103-chr1:217218640..217221582,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10863288	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs10863291	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11117746	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs11117747	0.86[ASN][1000 genomes]
rs11117748	0.86[ASN][1000 genomes]
rs11117750	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs11117751	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11117752	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs11117754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117758	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11572421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572424	0.93[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.97[ASN][1000 genomes]
rs12067977	0.86[ASN][1000 genomes]
rs12075072	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134950	0.86[ASN][1000 genomes]
rs12141987	0.98[EUR][1000 genomes]
rs12142044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635993	0.86[ASN][1000 genomes]
rs17687992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377360	0.90[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs4113088	0.86[ASN][1000 genomes]
rs4846805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1006155	chr1:217157000-217215465	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217204800-217226000	Weak transcription	Fetal Kidney	kidney
2	chr1:217212000-217223200	Weak transcription	Gastric	stomach
3	chr1:217212600-217223000	Weak transcription	Pancreas	Pancrea
4	chr1:217212600-217224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:217213400-217215600	Weak transcription	Psoas Muscle	Psoas
6	chr1:217213400-217240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:217214200-217216200	Enhancers	Fetal Heart	heart
8	chr1:217214600-217215600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:217214600-217216800	Enhancers	Fetal Muscle Leg	muscle
10	chr1:217214800-217216800	Enhancers	Brain Hippocampus Middle	brain
11	chr1:217215000-217216400	Enhancers	Fetal Brain Male	brain
12	chr1:217215200-217216600	Enhancers	Right Atrium	heart
13	chr1:217215400-217216400	Enhancers	Fetal Brain Female	brain
14	chr1:217215400-217216800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:217215400-217217000	Enhancers	Brain Anterior Caudate	brain
16	chr1:217215400-217226600	Weak transcription	Brain Cingulate Gyrus	brain

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