Variant report

Variant	rs814873
Chromosome Location	chr1:76107306-76107307
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	chr1:76094932..76097642-chr1:76105459..76107452,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A5-4	chr1:76105925-76108177	NONHSAT003984

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

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10873738	0.87[CHB][hapmap]
rs1093006	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1093009	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1093011	0.83[ASN][1000 genomes]
rs11161447	0.83[JPT][hapmap]
rs11161465	0.86[JPT][hapmap]
rs11161704	0.80[ASN][1000 genomes]
rs1144328	0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1144331	0.91[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1144333	0.90[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1144337	0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1144339	0.80[ASN][1000 genomes]
rs1144341	0.80[ASN][1000 genomes]
rs1144342	0.91[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1146572	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146577	0.84[ASN][1000 genomes]
rs1146592	0.89[ASN][1000 genomes]
rs1146593	0.87[ASN][1000 genomes]
rs1146602	0.87[ASN][1000 genomes]
rs1146616	0.85[ASN][1000 genomes]
rs1146625	0.81[ASN][1000 genomes]
rs1146642	1.00[YRI][hapmap]
rs1146645	0.81[ASN][1000 genomes]
rs1146647	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1146648	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1146649	0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1146651	0.91[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1146652	0.91[CHB][hapmap];0.82[JPT][hapmap];0.80[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]
rs1250875	0.90[ASN][1000 genomes]
rs1250876	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1250877	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1250878	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1250880	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1250882	0.80[ASN][1000 genomes]
rs1251065	0.90[ASN][1000 genomes]
rs1251078	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1251079	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1251270	0.80[ASN][1000 genomes]
rs1251272	0.87[CHB][hapmap]
rs1251273	0.80[ASN][1000 genomes]
rs1251274	0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12703	0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs12732722	0.86[JPT][hapmap]
rs12744608	0.82[JPT][hapmap]
rs12745456	0.82[JPT][hapmap]
rs1323734	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1621198	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1631498	0.84[ASN][1000 genomes]
rs1694428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1767459	0.86[ASN][1000 genomes]
rs1770513	0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1960528	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2012536	0.81[ASN][1000 genomes]
rs5745321	1.00[YRI][hapmap]
rs5745327	0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs5745343	0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs5745354	0.85[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs5745392	0.91[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs6695055	0.83[JPT][hapmap]
rs696677	0.93[ASN][1000 genomes]
rs696679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs699677	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs699683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs699824	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs699825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7516477	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7548991	0.86[JPT][hapmap]
rs814851	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814855	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814874	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814897	0.83[ASN][1000 genomes]
rs815303	0.87[ASN][1000 genomes]
rs815309	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9660848	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv10295	chr1:76085406-76119292	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv997990	chr1:76086763-76121738	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1003742	chr1:76086763-76124052	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv998205	chr1:76086763-76125366	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3692758	chr1:76088392-76126205	Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv546582	chr1:76088392-76126205	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv546583	chr1:76088392-76134765	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	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
15	esv34738	chr1:76094234-76121479	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv34562	chr1:76094234-76121738	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	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

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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