Variant report

Variant	rs2840794
Chromosome Location	chr6:73459390-73459391
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	chr6:73458624..73460863-chr6:73463471..73466417,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10046418	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193344	0.82[JPT][hapmap]
rs12213677	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs12214158	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2144089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2982750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2982751	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2982752	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4538671	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs62410661	0.84[EUR][1000 genomes]
rs6906492	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs6931185	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs72937555	0.84[EUR][1000 genomes]
rs7743692	0.85[CEU][hapmap]
rs7756180	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs7758723	0.82[JPT][hapmap]
rs9293907	0.83[EUR][1000 genomes]
rs9293909	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs9293910	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs9293911	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs9442841	0.85[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs9442842	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9446743	0.83[EUR][1000 genomes]
rs9446746	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs9446749	0.85[CEU][hapmap]
rs9689048	0.84[EUR][1000 genomes]

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	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886154	chr6:73442239-73471683	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73452600-73469800	Weak transcription	Aorta	Aorta
2	chr6:73455200-73460000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:73455400-73461000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:73456200-73461000	Enhancers	HMEC	breast
5	chr6:73457200-73461000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:73457400-73459400	Enhancers	Osteobl	bone
7	chr6:73457400-73460000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:73457400-73460000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:73457400-73460000	Enhancers	HSMM	muscle
10	chr6:73457600-73459600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:73457800-73459400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:73458000-73459600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:73458600-73460400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:73458800-73459800	Weak transcription	GM12878-XiMat	blood
15	chr6:73458800-73463600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:73459000-73459400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:73459000-73459800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:73459000-73460000	Enhancers	NHEK	skin

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