Variant report

Variant	rs1694428
Chromosome Location	chr1:76176879-76176880
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	chr1:76175057..76177134-chr1:76227565..76229242,2	K562	blood:
2	chr1:76174957..76177088-chr1:76188686..76191585,2	K562	blood:

Variant related genes	Relation type
ENSG00000117054	Chromatin interaction
ENSG00000178193	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10873738	0.86[CHB][hapmap]
rs11161447	0.86[JPT][hapmap]
rs11161465	0.90[JPT][hapmap]
rs1144328	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1144331	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1144333	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1144337	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1144342	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1146572	0.81[ASN][1000 genomes]
rs1146577	0.84[ASN][1000 genomes]
rs1146647	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs1146648	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs1146649	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1146651	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1146652	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs12022011	0.95[JPT][hapmap]
rs12027620	0.82[JPT][hapmap]
rs12032051	0.86[JPT][hapmap]
rs12045299	0.90[JPT][hapmap]
rs12076093	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs12090712	0.86[CHB][hapmap]
rs12401729	0.85[CHB][hapmap]
rs1250875	0.81[ASN][1000 genomes]
rs1250876	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1250877	0.81[ASN][1000 genomes]
rs1250878	0.81[ASN][1000 genomes]
rs1250880	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1251065	0.81[ASN][1000 genomes]
rs1251078	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1251079	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1251272	0.86[CHB][hapmap]
rs1251274	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs12703	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs12732722	0.90[JPT][hapmap]
rs12744608	0.86[JPT][hapmap]
rs12745456	0.86[JPT][hapmap]
rs1498313	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs1603734	0.86[CHB][hapmap]
rs1694422	0.84[ASN][1000 genomes]
rs1770513	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2792082	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3765682	0.85[CHB][hapmap]
rs5745327	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs5745343	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs5745354	0.84[CHB][hapmap]
rs5745392	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs5745465	0.85[CHB][hapmap]
rs5745542	0.86[CHB][hapmap]
rs6695055	0.87[JPT][hapmap]
rs696679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs699683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs699825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7514912	0.86[CHB][hapmap]
rs7516477	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7548391	0.86[CHB][hapmap]
rs7548991	0.90[JPT][hapmap]
rs815308	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs815309	0.82[ASN][1000 genomes]
rs9660848	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76176400-76177000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:76176400-76178200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76176600-76177000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:76176600-76177800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:76176800-76177000	Enhancers	Left Ventricle	heart
6	chr1:76176800-76177200	Enhancers	Skeletal Muscle Female	skeletal muscle

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