Variant report

Variant	rs496179
Chromosome Location	chr1:97721488-97721489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10430074	1.00[CHD][hapmap]
rs10875055	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11165814	0.94[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126526	1.00[ASN][1000 genomes]
rs12133667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12139679	1.00[ASN][1000 genomes]
rs1413227	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413229	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1413231	1.00[CHB][hapmap]
rs1413235	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap]
rs17471125	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1970142	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3762412	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs494271	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap]
rs4950023	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs533365	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542490	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592609	0.81[TSI][hapmap]
rs595937	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs650879	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6593632	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6593636	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6593637	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6661442	1.00[CHB][hapmap]
rs6681752	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6683351	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6683883	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6697132	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap]
rs688913	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7513333	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7537668	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.81[TSI][hapmap]
rs828052	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs828054	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs828058	1.00[CHB][hapmap]
rs885622	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap]
rs914959	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv470728	chr1:97703325-97761972	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97699400-97723600	Weak transcription	Lung	lung
2	chr1:97699600-97729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:97700600-97723600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:97700600-97733000	Weak transcription	Dnd41	blood
5	chr1:97713400-97723600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:97714000-97723800	Weak transcription	Aorta	Aorta
7	chr1:97716800-97733000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:97718000-97721600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:97718400-97736600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:97718600-97723600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:97719200-97733800	Weak transcription	Liver	Liver
12	chr1:97719600-97733000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:97720600-97736600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:97720600-97772000	Weak transcription	Ovary	ovary
15	chr1:97721400-97721600	Enhancers	Brain Anterior Caudate	brain

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