Variant report

Variant	rs6963627
Chromosome Location	chr7:146079905-146079906
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	chr7:146077123..146080368-chr7:146083154..146084711,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10238194	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap]
rs10243810	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10249426	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10262298	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10487936	1.00[CHB][hapmap]
rs12667234	0.80[CHB][hapmap]
rs12670728	0.96[ASN][1000 genomes]
rs13237342	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs1358084	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1526161	0.96[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1639432	0.87[CEU][hapmap]
rs1639438	0.87[CEU][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1639477	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1639480	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1639481	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1639482	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1639483	0.92[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1639484	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1718070	0.95[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1718076	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1718083	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1718093	0.87[CEU][hapmap]
rs1724507	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1724528	1.00[ASW][hapmap];0.96[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1724532	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17505462	0.91[CEU][hapmap]
rs17583547	0.86[CEU][hapmap]
rs1860684	0.87[MEX][hapmap]
rs2058375	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2058376	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2058377	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2109695	0.96[ASN][1000 genomes]
rs2372492	0.96[ASN][1000 genomes]
rs2535754	0.86[CHB][hapmap]
rs34079621	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs34086340	0.96[ASN][1000 genomes]
rs34137151	0.96[ASN][1000 genomes]
rs34416126	0.96[ASN][1000 genomes]
rs4109977	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs4725691	0.93[CHB][hapmap]
rs4725692	1.00[CHB][hapmap]
rs4726785	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs57803192	0.88[ASN][1000 genomes]
rs6464758	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs6464759	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs6948846	0.83[MEX][hapmap]
rs6951145	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs6978796	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs766503	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7780801	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs802191	0.95[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs802196	0.80[CHB][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap]
rs802200	1.00[ASW][hapmap];0.92[CEU][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.89[TSI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs802203	0.96[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs986264	0.91[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1020950	chr7:145683419-146264304	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv889387	chr7:145903862-146239545	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv533345	chr7:145934546-146134958	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv889388	chr7:145998111-146082957	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv524528	chr7:145998111-146086322	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv889389	chr7:145998111-146121539	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv608929	chr7:146020936-146082957	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv608930	chr7:146025509-146081452	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv917027	chr7:146069317-146194011	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6963627	CNTNAP2	cis	cerebellum	SCAN
rs6963627	OR6V1	cis	cerebellum	SCAN

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
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