Variant report

Variant	rs7953143
Chromosome Location	chr12:40571905-40571906
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40570708-40576790..12:40691796-40694737	K562	blood:
2	12:40570708-40576790..12:40703633-40711447	K562	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10454013	0.87[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10506141	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs10877929	0.80[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11174735	0.80[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11174998	0.83[ASN][1000 genomes]
rs11175021	0.83[ASN][1000 genomes]
rs11175027	0.87[CHB][hapmap];0.85[JPT][hapmap];0.96[MKK][hapmap];0.83[ASN][1000 genomes]
rs11175090	0.87[CHB][hapmap];0.85[JPT][hapmap];0.96[MKK][hapmap];0.82[ASN][1000 genomes]
rs11175094	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11175106	0.87[CHB][hapmap];0.85[JPT][hapmap];0.96[MKK][hapmap];0.81[ASN][1000 genomes]
rs11175409	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175456	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11564157	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11564215	0.84[EUR][1000 genomes]
rs12228213	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs12230685	1.00[ASW][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2101144	0.82[ASN][1000 genomes]
rs2201142	0.85[ASN][1000 genomes]
rs2708445	0.85[ASN][1000 genomes]
rs28370645	0.80[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs28370647	0.80[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs28370666	0.80[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4533099	0.89[ASN][1000 genomes]
rs61933163	0.89[ASN][1000 genomes]
rs7135815	0.87[CHB][hapmap];0.85[JPT][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7301226	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302006	0.80[CHB][hapmap];0.92[MKK][hapmap]
rs7966132	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7966741	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7967369	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs7969677	0.89[GIH][hapmap]
rs7973688	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7975693	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	esv3398206	chr12:40556364-40581392	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

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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