Variant report

Variant	rs594953
Chromosome Location	chr10:27767506-27767507
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	chr10:27764701..27767578-chr10:27773110..27774653,2	K562	blood:
2	chr10:27764841..27767820-chr10:27775141..27776833,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10741135	0.89[EUR][1000 genomes]
rs10764700	0.82[EUR][1000 genomes]
rs10764701	0.82[EUR][1000 genomes]
rs10764703	0.82[EUR][1000 genomes]
rs10764704	0.82[EUR][1000 genomes]
rs10764705	0.82[EUR][1000 genomes]
rs10764706	0.82[EUR][1000 genomes]
rs10764707	0.83[EUR][1000 genomes]
rs10764708	0.83[EUR][1000 genomes]
rs10764709	0.82[EUR][1000 genomes]
rs10829263	0.86[EUR][1000 genomes]
rs10829269	0.81[EUR][1000 genomes]
rs10829270	0.82[EUR][1000 genomes]
rs10829272	0.82[EUR][1000 genomes]
rs10829273	0.82[EUR][1000 genomes]
rs10829274	0.83[EUR][1000 genomes]
rs10829275	0.82[EUR][1000 genomes]
rs1157735	0.86[EUR][1000 genomes]
rs11597728	0.81[EUR][1000 genomes]
rs11598268	0.81[EUR][1000 genomes]
rs11812227	0.90[EUR][1000 genomes]
rs11818763	0.81[EUR][1000 genomes]
rs1748482	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2477328	0.91[ASN][1000 genomes]
rs2477329	0.86[EUR][1000 genomes]
rs2477330	0.90[ASN][1000 genomes]
rs2477332	0.91[ASN][1000 genomes]
rs2477333	0.91[ASN][1000 genomes]
rs2477334	0.84[EUR][1000 genomes]
rs2477337	0.84[EUR][1000 genomes]
rs2477340	0.90[ASN][1000 genomes]
rs2505295	0.91[ASN][1000 genomes]
rs2505331	0.86[EUR][1000 genomes]
rs2505334	0.91[ASN][1000 genomes]
rs34636144	0.82[EUR][1000 genomes]
rs34767495	0.82[EUR][1000 genomes]
rs56851979	0.84[EUR][1000 genomes]
rs584807	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs587093	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590990	0.81[EUR][1000 genomes]
rs592818	0.90[EUR][1000 genomes]
rs599641	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs625446	0.89[EUR][1000 genomes]
rs627663	0.87[EUR][1000 genomes]
rs660053	0.86[EUR][1000 genomes]
rs66732057	0.82[EUR][1000 genomes]
rs671279	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs683321	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7074813	0.82[EUR][1000 genomes]
rs7079708	0.80[EUR][1000 genomes]
rs7090506	0.82[EUR][1000 genomes]
rs7096275	0.82[EUR][1000 genomes]
rs72812124	0.82[EUR][1000 genomes]
rs7899596	0.80[EUR][1000 genomes]
rs7915734	0.87[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	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
5	esv2750890	chr10:27669479-27774501	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 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	chr10:27764000-27768400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:27765200-27771800	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:27765400-27767600	Weak transcription	HMEC	breast
4	chr10:27766800-27768400	Enhancers	NHEK	skin
5	chr10:27767000-27771600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:27767400-27768400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:27767400-27768400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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