Variant report

Variant	rs6944808
Chromosome Location	chr7:147252548-147252549
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	chr7:147251094..147253018-chr7:147254874..147257649,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10223936	0.89[ASN][1000 genomes]
rs10223972	0.89[ASN][1000 genomes]
rs10226112	0.80[CEU][hapmap]
rs10226376	0.80[CEU][hapmap]
rs10226389	0.80[CEU][hapmap]
rs10236087	0.80[CEU][hapmap]
rs10237202	0.80[CEU][hapmap]
rs10244825	0.80[CEU][hapmap]
rs10250480	0.80[CEU][hapmap]
rs10250939	0.85[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs10257834	0.85[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs10261388	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10261996	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs10264004	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs10266173	0.85[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs10269376	0.85[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs10269610	0.89[ASN][1000 genomes]
rs10270024	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10270032	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10272825	0.89[ASN][1000 genomes]
rs10273288	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs10273613	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10279399	0.88[ASN][1000 genomes]
rs10281966	0.80[CEU][hapmap]
rs10952695	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1157301	0.82[CEU][hapmap]
rs1157302	0.83[CEU][hapmap]
rs11768141	0.89[ASN][1000 genomes]
rs12666239	0.80[CEU][hapmap]
rs13232091	0.87[ASN][1000 genomes]
rs1859549	0.88[ASN][1000 genomes]
rs2051875	0.83[CEU][hapmap]
rs2074713	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs2074714	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap]
rs2074715	0.81[CHB][hapmap];0.98[CHD][hapmap];0.81[JPT][hapmap]
rs2107858	0.81[CEU][hapmap]
rs2107861	0.80[CEU][hapmap]
rs2158640	0.80[CEU][hapmap]
rs2189998	0.80[CEU][hapmap]
rs2189999	0.80[CEU][hapmap]
rs2190000	0.88[ASN][1000 genomes]
rs2190001	0.88[ASN][1000 genomes]
rs2190002	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2190003	0.88[ASN][1000 genomes]
rs2190004	0.85[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2190005	0.88[ASN][1000 genomes]
rs2190006	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2190007	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2214735	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2240376	0.85[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs2373103	0.80[CEU][hapmap]
rs2373104	0.85[CEU][hapmap]
rs4615480	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs4726884	0.83[CHB][hapmap]
rs5003024	0.80[CEU][hapmap]
rs6464821	0.90[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs6464823	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs6464824	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6944540	0.90[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs6946882	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6952758	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs6957033	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs6962824	0.85[CHB][hapmap];0.98[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs6962950	0.88[ASN][1000 genomes]
rs6963584	0.80[CEU][hapmap]
rs6966095	0.88[ASN][1000 genomes]
rs6973502	0.90[CEU][hapmap]
rs6975841	0.81[CHB][hapmap]
rs6978578	0.87[ASN][1000 genomes]
rs6979099	0.83[CEU][hapmap]
rs6980002	0.85[CHB][hapmap];0.98[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs6980460	0.84[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7459220	0.80[CEU][hapmap]
rs7799324	0.82[CEU][hapmap]
rs7805454	0.80[CEU][hapmap]
rs851816	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs851817	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs851821	0.86[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs851823	0.85[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs851824	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs851826	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs851828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs929353	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs985829	0.80[CEU][hapmap]
rs989241	0.80[CEU][hapmap]
rs989243	0.80[CEU][hapmap]
rs995890	0.87[CEU][hapmap]
rs995891	0.91[CEU][hapmap]
rs995892	0.83[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931005	chr7:146730472-147381257	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6944808	CNTNAP2	cis	cerebellum	SCAN
rs6944808	ABCB8	cis	parietal	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
chromosomal regions: chr1:12345-34567

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