Variant report

Variant	rs2190179
Chromosome Location	chr7:79045496-79045497
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78977361..78978896-chr7:79043903..79046403,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10230177	0.82[JPT][hapmap]
rs10254950	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10953851	0.80[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10953852	0.85[ASN][1000 genomes]
rs11976606	0.83[ASN][1000 genomes]
rs12154356	0.83[JPT][hapmap]
rs12154470	0.82[JPT][hapmap]
rs12539220	0.81[JPT][hapmap]
rs13230579	0.82[JPT][hapmap]
rs1358473	0.83[JPT][hapmap]
rs1406157	0.82[JPT][hapmap]
rs1528263	0.83[JPT][hapmap]
rs1528269	0.82[JPT][hapmap]
rs1528270	0.81[JPT][hapmap]
rs1554835	0.82[JPT][hapmap]
rs2158708	0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2190175	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2242505	0.82[JPT][hapmap]
rs2364913	0.80[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs28396540	0.88[ASN][1000 genomes]
rs28459297	0.86[ASN][1000 genomes]
rs28691838	0.86[ASN][1000 genomes]
rs4141207	0.83[ASN][1000 genomes]
rs4141208	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4256536	0.82[JPT][hapmap]
rs4727838	0.82[JPT][hapmap]
rs4730806	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6466621	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6946286	0.80[JPT][hapmap]
rs7785706	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7788509	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7792796	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7795832	0.81[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7799230	0.83[ASN][1000 genomes]
rs7807048	0.85[ASN][1000 genomes]
rs7808561	0.80[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9648980	0.82[JPT][hapmap]
rs970491	0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs991259	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs993860	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9969308	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs9969320	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv888514	chr7:78987060-79061837	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv607664	chr7:78998409-79057761	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv607665	chr7:79027730-79063644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv607666	chr7:79029872-79063644	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv607667	chr7:79029872-79065268	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv607668	chr7:79029872-79070452	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv427792	chr7:79039802-79253373	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79037200-79048800	Weak transcription	NHLF	lung
2	chr7:79040000-79048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:79040000-79049200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:79043000-79049200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:79043000-79051200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:79043400-79047600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:79043600-79045800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:79044200-79045800	Enhancers	Brain Hippocampus Middle	brain
9	chr7:79044600-79049600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:79044800-79048600	Weak transcription	Adipose Nuclei	Adipose
11	chr7:79045000-79048600	Weak transcription	Brain Angular Gyrus	brain
12	chr7:79045000-79049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:79045000-79049400	Weak transcription	NHDF-Ad	bronchial
14	chr7:79045400-79046000	Enhancers	Brain Anterior Caudate	brain

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