Variant report

Variant	rs313041
Chromosome Location	chr4:127565136-127565137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127564532..127567081-chr4:127569266..127571202,2	K562	blood:
2	chr4:127564763..127567671-chr4:127569805..127572802,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11730456	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12642270	0.98[ASN][1000 genomes]
rs12642385	0.98[ASN][1000 genomes]
rs12644037	0.98[ASN][1000 genomes]
rs12648195	0.88[ASN][1000 genomes]
rs12649618	0.86[ASN][1000 genomes]
rs12651202	0.98[ASN][1000 genomes]
rs13137093	0.97[ASN][1000 genomes]
rs167506	0.85[EUR][1000 genomes]
rs17011377	0.97[ASN][1000 genomes]
rs17011393	0.88[ASN][1000 genomes]
rs17011398	0.88[ASN][1000 genomes]
rs170197	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs191112	0.81[EUR][1000 genomes]
rs313043	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313045	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313103	0.85[EUR][1000 genomes]
rs313121	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs313124	0.94[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313129	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313130	0.85[EUR][1000 genomes]
rs313131	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs313132	0.91[EUR][1000 genomes]
rs313134	0.82[EUR][1000 genomes]
rs313137	0.85[EUR][1000 genomes]
rs313138	0.85[EUR][1000 genomes]
rs313139	0.84[EUR][1000 genomes]
rs4146615	0.83[ASN][1000 genomes]
rs432446	0.85[EUR][1000 genomes]
rs446747	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57840308	0.83[ASN][1000 genomes]
rs60412879	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 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	chr4:127564600-127566000	Strong transcription	K562	blood

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