Variant report

Variant	rs980043
Chromosome Location	chr1:190462592-190462593
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	chr1:190443878..190446178-chr1:190461343..190463264,2	K562	blood:

Variant related genes	Relation type
ENSG00000162670	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10429905	0.93[CEU][hapmap]
rs10800941	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs10920705	0.93[CEU][hapmap]
rs10920711	0.86[CEU][hapmap]
rs10920715	0.93[CEU][hapmap]
rs10920716	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10920720	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs10920724	1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap]
rs10920725	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs11806838	0.81[EUR][1000 genomes]
rs12025018	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs12030570	0.85[CEU][hapmap]
rs12035557	0.85[CEU][hapmap]
rs12040733	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs12042770	0.86[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]
rs12043892	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12058205	0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap]
rs12058472	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12065497	0.93[CEU][hapmap];0.86[GIH][hapmap]
rs12078918	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12082492	0.93[CEU][hapmap];0.86[GIH][hapmap]
rs12089382	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12091129	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap]
rs12093056	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs12095592	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs12097042	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs12724000	0.93[CEU][hapmap]
rs12732902	0.93[CEU][hapmap]
rs1442568	0.93[CEU][hapmap]
rs1442569	0.93[CEU][hapmap]
rs16832305	0.93[CEU][hapmap]
rs16832345	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs16832366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2047704	0.88[JPT][hapmap]
rs34302050	0.83[EUR][1000 genomes]
rs36045919	0.81[EUR][1000 genomes]
rs3931875	0.93[CEU][hapmap]
rs4845237	0.93[CEU][hapmap];0.87[GIH][hapmap]
rs6658194	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[MEX][hapmap]
rs6660355	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs6664710	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs6691910	0.93[CEU][hapmap]
rs71522434	0.93[EUR][1000 genomes]
rs7518762	0.81[EUR][1000 genomes]
rs7527690	0.92[CEU][hapmap]
rs7547903	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[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	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv872758	chr1:190351677-190510003	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872760	chr1:190377988-190577336	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872761	chr1:190389741-190485034	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv872762	chr1:190389741-190510003	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv872763	chr1:190389741-190531642	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv872764	chr1:190399946-190531642	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv872765	chr1:190418653-190464647	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466750	chr1:190433413-190496007	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv548551	chr1:190433413-190496007	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv466761	chr1:190433413-190545283	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv548552	chr1:190433413-190545283	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv466772	chr1:190446253-190492280	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv548553	chr1:190446253-190492280	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv470758	chr1:190456126-190510003	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv548554	chr1:190458764-190496007	Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv947209	chr1:190460919-190466839	Enhancers	Chromatin interactive region lncRNA	3 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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