Variant report

Variant	rs6699952
Chromosome Location	chr1:194445466-194445467
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	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10754103	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10801308	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10801309	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10801319	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10801320	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10801321	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10801322	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10801323	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10801324	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10801325	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10801326	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10801327	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801331	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10921572	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10921573	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10921574	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10921575	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10921576	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10921578	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10921585	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039743	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12117513	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12130953	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12140415	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12404469	0.80[ASN][1000 genomes]
rs12568952	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12752724	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12754660	0.81[AMR][1000 genomes]
rs2494128	0.87[ASN][1000 genomes]
rs2494129	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2494164	0.82[ASN][1000 genomes]
rs2494319	0.87[ASN][1000 genomes]
rs2494326	0.86[ASN][1000 genomes]
rs2494327	0.87[ASN][1000 genomes]
rs2494328	0.86[ASN][1000 genomes]
rs2494329	0.87[ASN][1000 genomes]
rs36037862	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4266861	0.86[ASN][1000 genomes]
rs4276899	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4316351	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4319304	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4393136	0.83[ASN][1000 genomes]
rs4507988	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4570405	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4657920	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4657921	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6428230	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6660372	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663467	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6663494	0.98[ASN][1000 genomes]
rs6663861	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6666829	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6670100	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6670113	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6672535	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6673013	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs6674504	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6675026	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6681230	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6681525	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6684926	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6685075	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6686647	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6688282	0.98[ASN][1000 genomes]
rs6689085	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6689478	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6696147	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6700283	0.82[ASN][1000 genomes]
rs6700592	0.87[EUR][1000 genomes]
rs6702683	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7512014	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7513892	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7514907	0.86[ASN][1000 genomes]
rs7534156	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7537157	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7544378	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7548838	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7553637	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9787072	0.86[EUR][1000 genomes]
rs9787107	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9787215	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9787218	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9787232	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9787235	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9787244	0.85[EUR][1000 genomes]
rs9787341	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872843	chr1:194221509-194506982	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv525365	chr1:194267401-194496590	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv427885	chr1:194281914-194515299	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv467038	chr1:194285693-194496590	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv548668	chr1:194285693-194496590	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv872854	chr1:194295528-194584977	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv872855	chr1:194295528-194641175	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv872856	chr1:194295528-194652655	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv430069	chr1:194298894-194491453	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv872858	chr1:194353541-194635480	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1010070	chr1:194364517-194650839	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv872859	chr1:194377156-194590401	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv467049	chr1:194403573-194445466	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv548673	chr1:194403573-194445466	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3364286	chr1:194410365-194598076	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1014879	chr1:194418509-195274182	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	esv1814266	chr1:194423891-194453253	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1011220	chr1:194434255-195276317	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv548674	chr1:194436341-194453052	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv1805673	chr1:194445466-194452849	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv548675	chr1:194445466-194453052	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194443200-194445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:194445200-194445800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:194445400-194446800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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