Variant report

Variant	rs58029983
Chromosome Location	chr2:86507135-86507136
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	chr2:86506417..86507945-chr2:86511790..86513500,2	K562	blood:
2	chr2:86506964..86508906-chr2:86509472..86512092,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10451631	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10451665	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10451666	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10451668	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1863062	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28527367	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35807694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35943273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821015	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56657747	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56742104	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57006782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57137376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57279476	0.85[EUR][1000 genomes]
rs57412282	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57743711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57786125	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57924251	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58141172	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58210919	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58287226	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58728311	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58996019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59149450	0.83[ASN][1000 genomes]
rs59300790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59409236	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59523869	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59567456	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60032974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60067772	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60237707	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60295664	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60345058	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60427833	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60474859	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60484746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60791163	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60840060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61392096	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61636758	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61669204	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61700819	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716825	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6728494	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6748079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760222	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72938375	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72940115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940149	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940160	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs753918	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7593666	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86499000-86510800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:86499200-86509600	Weak transcription	Aorta	Aorta
3	chr2:86499800-86507200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:86500000-86507400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:86500000-86517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:86502800-86510400	Weak transcription	Hela-S3	cervix
7	chr2:86502800-86513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:86503200-86507200	Weak transcription	Esophagus	oesophagus
9	chr2:86503400-86507200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:86503400-86508200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:86503400-86510800	Weak transcription	Colonic Mucosa	Colon
12	chr2:86503800-86510600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:86505800-86508200	Enhancers	Right Atrium	heart
14	chr2:86506200-86508400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:86506200-86508600	Enhancers	Fetal Muscle Leg	muscle
16	chr2:86506200-86509200	Enhancers	Psoas Muscle	Psoas
17	chr2:86506200-86512400	Enhancers	Left Ventricle	heart
18	chr2:86506400-86508400	Genic enhancers	Brain Germinal Matrix	brain
19	chr2:86506400-86508400	Enhancers	Fetal Stomach	stomach
20	chr2:86506400-86509000	Genic enhancers	Fetal Brain Female	brain
21	chr2:86506600-86507200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:86506600-86507400	Enhancers	Right Ventricle	heart
23	chr2:86506600-86507800	Genic enhancers	Fetal Intestine Large	intestine
24	chr2:86506600-86508000	Genic enhancers	Fetal Intestine Small	intestine
25	chr2:86506600-86508400	Enhancers	Fetal Heart	heart
26	chr2:86506600-86508400	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:86506600-86511800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr2:86506800-86507600	Enhancers	HSMM	muscle
29	chr2:86506800-86507800	Enhancers	Small Intestine	intestine
30	chr2:86506800-86508000	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:86506800-86508400	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr2:86506800-86508400	Enhancers	HSMMtube	muscle
33	chr2:86506800-86508600	Enhancers	Fetal Brain Male	brain
34	chr2:86506800-86513200	Enhancers	Colon Smooth Muscle	Colon
35	chr2:86507000-86507200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:86507000-86507200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:86507000-86507600	Enhancers	Brain Hippocampus Middle	brain
38	chr2:86507000-86507800	Enhancers	Adipose Nuclei	Adipose
39	chr2:86507000-86508000	Enhancers	Brain Anterior Caudate	brain
40	chr2:86507000-86508200	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:86507000-86508800	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:86507000-86509000	Enhancers	Fetal Lung	lung

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