Variant report

Variant	rs6466721
Chromosome Location	chr7:119609952-119609953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:119609825..119612771-chr7:119797844..119799640,2	K562	blood:
2	chr7:119604091..119606659-chr7:119609179..119612506,3	K562	blood:
3	chr7:119607984..119609980-chr7:119613441..119615371,3	K562	blood:
4	chr7:119544225..119546800-chr7:119608946..119611395,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10240920	1.00[EUR][1000 genomes]
rs10270493	1.00[EUR][1000 genomes]
rs10281213	0.89[ASN][1000 genomes]
rs17142462	0.89[ASN][1000 genomes]
rs17142463	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4727907	1.00[EUR][1000 genomes]
rs4730950	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57537501	1.00[EUR][1000 genomes]
rs58094128	1.00[EUR][1000 genomes]
rs59032327	1.00[EUR][1000 genomes]
rs59303341	1.00[EUR][1000 genomes]
rs59759080	1.00[EUR][1000 genomes]
rs61359667	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6466720	0.89[ASN][1000 genomes]
rs6466722	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6466723	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6466729	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6946932	0.89[ASN][1000 genomes]
rs6952014	0.86[ASN][1000 genomes]
rs6952303	0.89[ASN][1000 genomes]
rs6953016	0.89[ASN][1000 genomes]
rs6957543	0.89[ASN][1000 genomes]
rs6958144	0.89[ASN][1000 genomes]
rs6958184	0.89[ASN][1000 genomes]
rs6959959	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6964953	0.89[ASN][1000 genomes]
rs6966039	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6973663	1.00[EUR][1000 genomes]
rs6977157	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6977248	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980033	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73213776	0.89[ASN][1000 genomes]
rs73431725	1.00[EUR][1000 genomes]
rs7778262	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7778510	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7791026	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810567	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810590	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470388	chr7:119464310-119790102	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv464706	chr7:119514703-119612541	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv608324	chr7:119514703-119612541	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2753623	chr7:119532049-119770049	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1034757	chr7:119566828-119635442	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv1023232	chr7:119570263-119629936	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1033844	chr7:119570263-119635442	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1022766	chr7:119570497-119635442	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv1030379	chr7:119572954-119635442	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv1022301	chr7:119572954-119638121	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1020070	chr7:119572954-119654387	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv2761360	chr7:119572966-119635454	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1030051	chr7:119576733-119631484	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv515721	chr7:119577292-119612541	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv608325	chr7:119577292-119624000	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv429807	chr7:119577292-119629936	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1034426	chr7:119584151-119655491	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv831112	chr7:119585169-119776619	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	esv2756265	chr7:119595922-119629936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv2761107	chr7:119600529-119613841	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119605800-119610200	Weak transcription	NHLF	lung
2	chr7:119605800-119610400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:119605800-119611200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:119605800-119611200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:119609200-119610000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:119609400-119610400	Enhancers	HSMM	muscle
7	chr7:119609400-119611200	Weak transcription	Osteobl	bone

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