Variant report

Variant	rs8002911
Chromosome Location	chr13:49798391-49798392
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	chr13:49796072..49799283-chr13:49805700..49809326,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1013347	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12184794	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12871418	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1359066	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs1407827	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs1407829	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs1535922	0.89[GIH][hapmap]
rs1924659	0.84[CHD][hapmap]
rs1983805	0.95[GIH][hapmap];0.82[MEX][hapmap]
rs2075610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146748	0.89[GIH][hapmap]
rs2147398	0.81[CHD][hapmap]
rs2147399	0.83[AMR][1000 genomes]
rs2181539	0.89[GIH][hapmap]
rs2274150	0.81[CHD][hapmap]
rs2407609	0.81[CHD][hapmap]
rs2897633	0.87[GIH][hapmap]
rs2897689	0.82[GIH][hapmap]
rs2994377	0.89[GIH][hapmap]
rs2994378	0.89[GIH][hapmap]
rs2994379	0.89[GIH][hapmap]
rs2994380	0.91[GIH][hapmap]
rs3012121	0.89[GIH][hapmap]
rs4142065	0.89[GIH][hapmap]
rs4530025	0.89[GIH][hapmap]
rs4942799	0.93[GIH][hapmap];0.83[MEX][hapmap]
rs4942800	0.95[GIH][hapmap]
rs4942812	0.84[CHD][hapmap]
rs6561496	0.89[GIH][hapmap]
rs6561497	0.89[GIH][hapmap]
rs6561506	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561507	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67235936	0.82[AMR][1000 genomes]
rs7326191	0.84[CHD][hapmap]
rs7338304	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982804	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983885	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs7987258	0.81[GIH][hapmap];0.83[MEX][hapmap]
rs7988168	0.89[GIH][hapmap]
rs7994910	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs7995616	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs7997545	0.84[CHD][hapmap]
rs9316428	0.89[GIH][hapmap]
rs9316434	0.84[CHD][hapmap]
rs9526518	0.89[GIH][hapmap]
rs9526521	0.88[GIH][hapmap]
rs9526531	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526532	0.83[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535136	0.89[GIH][hapmap]
rs9535145	0.89[GIH][hapmap]
rs9535146	0.89[GIH][hapmap]
rs9535154	0.89[GIH][hapmap]
rs9535155	0.89[GIH][hapmap]
rs9535166	0.89[GIH][hapmap]
rs9535167	0.89[GIH][hapmap]
rs9535170	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9535172	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535181	0.84[CHD][hapmap]
rs9535184	0.84[CHD][hapmap]
rs9535193	0.84[CHD][hapmap]
rs9562866	0.89[GIH][hapmap]
rs9562870	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs9568150	0.89[GIH][hapmap]
rs9568169	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568171	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568172	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568173	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9568177	0.84[CHD][hapmap]
rs9591246	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596073	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972297	0.86[CHD][hapmap];0.91[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49794800-49799400	Weak transcription	Liver	Liver
2	chr13:49795000-49799000	Weak transcription	HepG2	liver
3	chr13:49795400-49799400	Weak transcription	Pancreas	Pancrea
4	chr13:49797000-49799000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:49797400-49798600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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