Variant report

Variant	rs4673654
Chromosome Location	chr2:213093403-213093404
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10048750	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10048819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10168128	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168303	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201835	1.00[ASN][1000 genomes]
rs10207020	0.94[ASN][1000 genomes]
rs11676942	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11677095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682936	0.94[ASN][1000 genomes]
rs11694300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11887771	1.00[ASN][1000 genomes]
rs11896691	0.92[ASN][1000 genomes]
rs11902860	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12185587	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13408933	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13415721	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13424619	0.82[EUR][1000 genomes]
rs13426969	0.92[ASN][1000 genomes]
rs13428714	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13429136	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1357136	0.90[ASN][1000 genomes]
rs1357137	0.90[ASN][1000 genomes]
rs1357138	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1402762	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1402764	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521638	0.87[ASN][1000 genomes]
rs1521639	0.93[ASN][1000 genomes]
rs1521641	1.00[ASN][1000 genomes]
rs1521642	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1521643	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1521644	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1521645	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1851285	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1851286	0.96[ASN][1000 genomes]
rs1915747	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1948875	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1949651	0.88[EUR][1000 genomes]
rs1949652	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1949653	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1949654	0.90[ASN][1000 genomes]
rs1976839	0.95[ASN][1000 genomes]
rs2030474	0.84[ASN][1000 genomes]
rs2139971	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4233985	1.00[ASN][1000 genomes]
rs4375810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672641	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4672643	0.81[EUR][1000 genomes]
rs6724508	0.98[ASN][1000 genomes]
rs6727639	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6742273	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6745160	0.81[EUR][1000 genomes]
rs6755951	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7560301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7561603	0.81[EUR][1000 genomes]
rs7581138	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7592673	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001718	chr2:213047033-213155985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1004823	chr2:213052804-213181263	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv536138	chr2:213052804-213181263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1006051	chr2:213052804-213273642	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv875807	chr2:213054058-213103721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv584346	chr2:213067749-213258622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2763085	chr2:213073428-213107281	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv998615	chr2:213081893-213202228	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv536139	chr2:213081893-213202228	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv1007853	chr2:213087904-213134413	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213090600-213093800	Enhancers	Fetal Heart	heart
2	chr2:213091000-213098800	Weak transcription	Aorta	Aorta
3	chr2:213092000-213093600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:213092200-213094000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:213092200-213094200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:213092400-213093800	Enhancers	Osteobl	bone
7	chr2:213092400-213094400	Enhancers	Brain Germinal Matrix	brain
8	chr2:213092600-213094000	Enhancers	Brain Substantia Nigra	brain
9	chr2:213092800-213093800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:213092800-213093800	Weak transcription	Fetal Kidney	kidney
11	chr2:213092800-213093800	Enhancers	NHEK	skin
12	chr2:213092800-213094200	Enhancers	Fetal Lung	lung
13	chr2:213092800-213094600	Enhancers	Hela-S3	cervix
14	chr2:213093400-213094000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:213093400-213094000	Enhancers	NHDF-Ad	bronchial
16	chr2:213093400-213094200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:213093400-213094400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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