Variant report

Variant	rs34952652
Chromosome Location	chr2:178590050-178590051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178088476..178090203-chr2:178588008..178591077,3	K562	blood:
2	chr2:178589552..178591221-chr2:178591349..178593643,3	K562	blood:
3	chr2:178076844..178079068-chr2:178587919..178590256,2	K562	blood:
4	chr2:178578841..178579788-chr2:178589264..178590054,2	K562	blood:
5	chr2:178354172..178355030-chr2:178589245..178590053,2	K562	blood:
6	chr2:178077568..178079461-chr2:178587919..178590496,2	K562	blood:
7	chr2:178479040..178481545-chr2:178589525..178591056,2	K562	blood:
8	chr2:178148139..178151111-chr2:178587913..178590676,3	K562	blood:
9	chr2:178589973..178591611-chr2:178597442..178599800,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229337	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000263721	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10497488	0.92[ASN][1000 genomes]
rs10497489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930806	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684634	0.94[EUR][1000 genomes]
rs12987101	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12989020	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13012431	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13031632	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1344916	0.95[EUR][1000 genomes]
rs1344917	0.94[EUR][1000 genomes]
rs1344925	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370655	0.84[ASN][1000 genomes]
rs1438037	0.95[EUR][1000 genomes]
rs1438038	0.96[EUR][1000 genomes]
rs1438039	0.96[EUR][1000 genomes]
rs1438048	0.93[EUR][1000 genomes]
rs1561319	0.96[EUR][1000 genomes]
rs1561320	0.94[EUR][1000 genomes]
rs16865726	0.96[EUR][1000 genomes]
rs16865769	0.92[ASN][1000 genomes]
rs17400512	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1866208	0.95[EUR][1000 genomes]
rs1866209	0.95[EUR][1000 genomes]
rs1866210	0.95[EUR][1000 genomes]
rs1866211	0.94[EUR][1000 genomes]
rs1866212	0.94[EUR][1000 genomes]
rs1975323	0.92[EUR][1000 genomes]
rs1975324	0.95[EUR][1000 genomes]
rs2164857	0.94[EUR][1000 genomes]
rs2365889	0.96[EUR][1000 genomes]
rs28707296	0.92[EUR][1000 genomes]
rs2886498	0.96[EUR][1000 genomes]
rs3754993	0.94[EUR][1000 genomes]
rs3754994	0.94[EUR][1000 genomes]
rs3770028	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770034	0.96[EUR][1000 genomes]
rs3770042	0.95[EUR][1000 genomes]
rs3770043	0.90[ASN][1000 genomes]
rs4893839	0.95[EUR][1000 genomes]
rs4893840	0.95[EUR][1000 genomes]
rs57427125	0.92[ASN][1000 genomes]
rs57877880	0.92[ASN][1000 genomes]
rs58408943	0.92[ASN][1000 genomes]
rs59657949	0.84[ASN][1000 genomes]
rs60748325	0.92[ASN][1000 genomes]
rs62183005	0.92[ASN][1000 genomes]
rs62183040	0.88[ASN][1000 genomes]
rs6433693	0.96[EUR][1000 genomes]
rs6756240	0.95[EUR][1000 genomes]
rs73030327	0.92[ASN][1000 genomes]
rs73030354	0.92[ASN][1000 genomes]
rs749207	0.95[EUR][1000 genomes]
rs749208	0.94[EUR][1000 genomes]
rs934798	0.84[ASN][1000 genomes]
rs998059	0.95[EUR][1000 genomes]
rs998060	0.95[EUR][1000 genomes]
rs998061	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178587800-178594000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:178589200-178593000	Enhancers	Ovary	ovary
3	chr2:178589400-178591600	Weak transcription	Fetal Brain Male	brain
4	chr2:178589400-178594200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:178589400-178595600	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:178589600-178590200	Enhancers	HUVEC	blood vessel
7	chr2:178589600-178590600	Weak transcription	Fetal Stomach	stomach
8	chr2:178589600-178590800	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:178589600-178591600	Weak transcription	Stomach Mucosa	stomach
10	chr2:178589600-178591800	Weak transcription	Fetal Intestine Small	intestine
11	chr2:178589600-178593000	Weak transcription	Liver	Liver
12	chr2:178589800-178591000	Weak transcription	Fetal Lung	lung
13	chr2:178589800-178592200	Weak transcription	Fetal Kidney	kidney

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