Variant report

Variant	rs62139188
Chromosome Location	chr2:54434532-54434533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54430392..54431993-chr2:54432039..54434857,2	MCF-7	breast:
2	chr2:54432631..54436865-chr2:54437237..54440391,3	K562	blood:
3	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10188489	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439478	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10865281	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11125526	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11125528	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11884867	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11886559	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11893929	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11894205	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11899551	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11902901	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12612860	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12614774	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12616744	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12616857	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13410397	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13412139	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13417493	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1385273	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1399513	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1484692	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17045583	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17045585	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17045588	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17045654	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17045658	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17045688	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17045704	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1986036	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2010461	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35126790	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3912428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3915270	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55743218	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56042969	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56755567	0.93[EUR][1000 genomes]
rs58107053	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62138037	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6717823	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6723912	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6732970	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72802630	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72802650	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567646	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7602930	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7607356	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1009828	chr2:54393122-54488721	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv525086	chr2:54432222-54459211	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54387800-54457400	Weak transcription	Aorta	Aorta
2	chr2:54388400-54435000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:54412600-54435000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:54414200-54434600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:54415200-54434600	Weak transcription	HSMMtube	muscle
6	chr2:54416200-54451400	Weak transcription	Left Ventricle	heart
7	chr2:54431400-54435200	Enhancers	HepG2	liver
8	chr2:54432000-54434600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:54433600-54436200	Enhancers	Brain Anterior Caudate	brain
10	chr2:54433800-54434600	Weak transcription	Fetal Lung	lung
11	chr2:54433800-54434800	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:54434000-54434800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:54434000-54435200	Enhancers	Fetal Heart	heart
14	chr2:54434000-54436200	Enhancers	HUVEC	blood vessel
15	chr2:54434000-54436400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:54434000-54437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:54434000-54437000	Enhancers	Osteobl	bone
18	chr2:54434200-54437000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:54434200-54437000	Enhancers	Adipose Nuclei	Adipose
20	chr2:54434400-54435000	Weak transcription	Right Atrium	heart
21	chr2:54434400-54435200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:54434400-54435200	Enhancers	Ovary	ovary
23	chr2:54434400-54435200	Enhancers	NHEK	skin
24	chr2:54434400-54435400	Enhancers	Brain Substantia Nigra	brain
25	chr2:54434400-54435800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:54434400-54436000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:54434400-54436800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:54434400-54436800	Enhancers	HSMM	muscle
29	chr2:54434400-54437000	Enhancers	Fetal Kidney	kidney
30	chr2:54434400-54437000	Enhancers	NHLF	lung
31	chr2:54434400-54437800	Enhancers	NHDF-Ad	bronchial

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