Variant report

Variant	rs62176480
Chromosome Location	chr2:153014441-153014442
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	chr2:153013149..153015602-chr2:153019775..153021343,2	K562	blood:
2	chr2:153008214..153011246-chr2:153012538..153015766,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10427181	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930958	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12328066	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12466663	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467850	0.88[EUR][1000 genomes]
rs12474703	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12617139	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693269	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13000396	0.86[EUR][1000 genomes]
rs17326628	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17326677	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17398329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17398559	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17398585	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1962276	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2345639	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2345648	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2345650	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2345895	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2345896	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2345898	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2881245	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35195960	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35594562	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35820971	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4274558	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4305274	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4664536	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55677048	0.88[EUR][1000 genomes]
rs55837285	0.88[EUR][1000 genomes]
rs56018021	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56118729	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56127412	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56888625	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57542496	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62174961	0.88[EUR][1000 genomes]
rs62176518	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176559	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62177360	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62177369	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6650771	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6730115	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6731625	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732917	0.87[EUR][1000 genomes]
rs6738680	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754105	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72857747	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72864757	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557426	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7579071	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7592014	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7603232	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1004308	chr2:152980087-153154534	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535985	chr2:152980087-153154534	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv459740	chr2:152986041-153045036	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv583316	chr2:152986041-153045036	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152974200-153017000	Weak transcription	Colonic Mucosa	Colon
2	chr2:152976000-153014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:152978200-153021400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:152981800-153024800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:152991800-153018400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:153000200-153031000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:153002200-153023600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:153002400-153022000	Weak transcription	Lung	lung
9	chr2:153002800-153030400	Weak transcription	Thymus	Thymus
10	chr2:153003200-153028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:153003600-153028000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:153004000-153018400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:153004000-153022400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:153004200-153023800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:153004400-153016400	Weak transcription	NH-A	brain
16	chr2:153004400-153023600	Weak transcription	HSMM	muscle
17	chr2:153004400-153023600	Weak transcription	NHDF-Ad	bronchial
18	chr2:153004600-153021200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:153004800-153015000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:153004800-153022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:153005200-153016000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:153005200-153028000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:153005200-153028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:153005400-153023600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:153006800-153022200	Weak transcription	Liver	Liver
26	chr2:153007200-153028200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:153007400-153023600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:153008800-153015600	Weak transcription	Fetal Thymus	thymus
29	chr2:153008800-153016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:153008800-153016200	Weak transcription	Fetal Stomach	stomach
31	chr2:153008800-153016400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:153008800-153028800	Weak transcription	Esophagus	oesophagus
33	chr2:153010200-153016000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:153011000-153021400	Weak transcription	Pancreas	Pancrea
35	chr2:153011200-153021600	Weak transcription	Gastric	stomach
36	chr2:153013400-153015400	Strong transcription	Primary T cells from cord blood	blood
37	chr2:153013600-153015000	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr2:153013600-153016200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:153013800-153022000	Weak transcription	Left Ventricle	heart
40	chr2:153013800-153022400	Weak transcription	Psoas Muscle	Psoas
41	chr2:153013800-153023000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:153014000-153014800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:153014000-153014800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:153014000-153020600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:153014000-153022000	Weak transcription	Aorta	Aorta
46	chr2:153014000-153022000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:153014000-153022600	Weak transcription	A549	lung
48	chr2:153014000-153028400	Weak transcription	Right Ventricle	heart
49	chr2:153014200-153015200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:153014200-153015600	Weak transcription	Fetal Intestine Large	intestine

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