Variant report

Variant	rs72969957
Chromosome Location	chr1:93454851-93454852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93322943..93324731-chr1:93454572..93457463,2	K562	blood:
2	chr1:93448732..93450681-chr1:93454344..93456846,2	K562	blood:
3	chr1:93452194..93457760-chr1:93458258..93461631,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11164802	1.00[EUR][1000 genomes]
rs11164817	1.00[EUR][1000 genomes]
rs11164834	1.00[EUR][1000 genomes]
rs11799875	1.00[EUR][1000 genomes]
rs11800464	1.00[EUR][1000 genomes]
rs12061768	1.00[EUR][1000 genomes]
rs12064459	1.00[EUR][1000 genomes]
rs12069560	1.00[EUR][1000 genomes]
rs12074805	1.00[EUR][1000 genomes]
rs12077455	1.00[EUR][1000 genomes]
rs12084062	1.00[EUR][1000 genomes]
rs12091803	1.00[EUR][1000 genomes]
rs12092810	1.00[EUR][1000 genomes]
rs17271666	1.00[EUR][1000 genomes]
rs56675391	1.00[EUR][1000 genomes]
rs57115390	1.00[EUR][1000 genomes]
rs59504501	1.00[EUR][1000 genomes]
rs60025932	1.00[EUR][1000 genomes]
rs60807198	1.00[EUR][1000 genomes]
rs60986131	1.00[EUR][1000 genomes]
rs6700752	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72955313	1.00[EUR][1000 genomes]
rs72955332	1.00[EUR][1000 genomes]
rs72968072	1.00[EUR][1000 genomes]
rs72968080	1.00[EUR][1000 genomes]
rs72968097	1.00[EUR][1000 genomes]
rs72969937	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72969976	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93451800-93466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:93452400-93458600	Weak transcription	HSMMtube	muscle
3	chr1:93452600-93456000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:93453800-93456200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:93454400-93458800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:93454600-93455800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:93454600-93455800	Enhancers	Dnd41	blood
8	chr1:93454600-93458000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:93454600-93458200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:93454600-93458400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:93454600-93458800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:93454600-93459800	Enhancers	Primary T cells from cord blood	blood
13	chr1:93454600-93459800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:93454800-93455000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:93454800-93456000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:93454800-93456000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:93454800-93456000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:93454800-93456400	Enhancers	NHDF-Ad	bronchial
19	chr1:93454800-93458200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:93454800-93459800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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