Variant report

Variant	rs699825
Chromosome Location	chr1:76159278-76159279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76157193..76160004-chr1:76260955..76264534,3	K562	blood:
2	chr1:76158085..76160004-chr1:76262153..76264534,2	K562	blood:
3	chr1:76153507..76155716-chr1:76158535..76161147,2	K562	blood:
4	chr1:76139328..76142229-chr1:76158809..76161190,2	K562	blood:
5	chr1:76157340..76160559-chr1:76189001..76191132,3	K562	blood:
6	chr1:76158932..76160525-chr1:76160690..76162510,2	K562	blood:

Variant related genes	Relation type
ENSG00000178193	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000057468	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10873738	0.87[CHB][hapmap]
rs1093006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1093009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1093011	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11161447	0.83[JPT][hapmap]
rs11161465	0.86[JPT][hapmap]
rs11161704	0.83[ASN][1000 genomes]
rs1144328	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1144331	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1144333	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1144337	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1144339	0.83[ASN][1000 genomes]
rs1144341	0.83[ASN][1000 genomes]
rs1144342	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1146572	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146577	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1146587	0.82[ASN][1000 genomes]
rs1146592	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1146593	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146602	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146613	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1146616	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1146625	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1146645	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146647	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146648	0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1146649	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1146651	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1146652	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12022011	0.90[JPT][hapmap]
rs12032051	0.83[JPT][hapmap]
rs12045299	0.86[JPT][hapmap]
rs12076093	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12090712	0.87[CHB][hapmap]
rs12401729	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs1250875	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1250876	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1250877	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1250878	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1250880	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1250882	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251065	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1251077	0.84[ASN][1000 genomes]
rs1251078	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1251079	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1251270	0.83[ASN][1000 genomes]
rs1251272	0.87[CHB][hapmap]
rs1251273	0.83[ASN][1000 genomes]
rs1251274	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12703	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12732722	0.86[JPT][hapmap]
rs12744608	0.82[JPT][hapmap]
rs12745456	0.82[JPT][hapmap]
rs1323734	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498313	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1603734	0.87[CHB][hapmap]
rs1621198	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631498	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1694428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1767457	0.81[ASN][1000 genomes]
rs1767459	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1770513	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1960528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012536	0.84[ASN][1000 genomes]
rs3765682	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs5745327	0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs5745343	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs5745354	0.85[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs5745392	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs5745465	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs59974491	0.84[AFR][1000 genomes]
rs6695055	0.83[JPT][hapmap]
rs696677	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs696679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514912	0.87[CHB][hapmap]
rs7516477	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7548391	0.87[CHB][hapmap]
rs7548991	0.86[JPT][hapmap]
rs814851	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814855	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814873	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814874	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814897	0.88[ASN][1000 genomes]
rs815303	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs815309	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9660848	0.86[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	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76159200-76159800	Flanking Active TSS	K562	blood

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