Variant report

Variant	rs2387572
Chromosome Location	chr20:24957164-24957165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24949924..24953271-chr20:24955139..24959186,4	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1056033	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1056036	0.98[ASN][1000 genomes]
rs11087486	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11087491	0.81[AFR][1000 genomes]
rs11699285	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11700073	0.88[ASN][1000 genomes]
rs11905625	0.88[ASN][1000 genomes]
rs11906373	0.93[ASN][1000 genomes]
rs12625319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13041643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1331286	0.81[ASN][1000 genomes]
rs1535042	0.86[ASN][1000 genomes]
rs1854849	0.81[ASN][1000 genomes]
rs1977540	0.84[ASN][1000 genomes]
rs2008275	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2092565	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103736	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2151462	0.93[ASN][1000 genomes]
rs2151463	0.93[ASN][1000 genomes]
rs2179729	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179730	0.98[ASN][1000 genomes]
rs2206891	0.91[ASN][1000 genomes]
rs2225459	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235847	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227590	0.84[ASN][1000 genomes]
rs227597	0.81[ASN][1000 genomes]
rs227613	0.88[ASN][1000 genomes]
rs227614	0.91[ASN][1000 genomes]
rs227615	0.86[ASN][1000 genomes]
rs227616	0.93[ASN][1000 genomes]
rs227618	0.86[ASN][1000 genomes]
rs227619	0.91[ASN][1000 genomes]
rs227620	0.91[ASN][1000 genomes]
rs227621	0.93[ASN][1000 genomes]
rs227622	0.93[ASN][1000 genomes]
rs227623	0.91[ASN][1000 genomes]
rs227624	0.93[ASN][1000 genomes]
rs227625	0.93[ASN][1000 genomes]
rs227626	0.91[ASN][1000 genomes]
rs227627	0.91[ASN][1000 genomes]
rs227628	0.91[ASN][1000 genomes]
rs227629	0.93[ASN][1000 genomes]
rs227630	0.93[ASN][1000 genomes]
rs227631	0.93[ASN][1000 genomes]
rs227632	0.93[ASN][1000 genomes]
rs227633	0.91[ASN][1000 genomes]
rs227634	0.91[ASN][1000 genomes]
rs227635	0.91[ASN][1000 genomes]
rs227639	0.91[ASN][1000 genomes]
rs227643	0.91[ASN][1000 genomes]
rs227646	0.91[ASN][1000 genomes]
rs227648	0.91[ASN][1000 genomes]
rs227649	0.81[ASN][1000 genomes]
rs227650	0.91[ASN][1000 genomes]
rs227651	0.93[ASN][1000 genomes]
rs227652	0.91[ASN][1000 genomes]
rs227653	0.91[ASN][1000 genomes]
rs227657	0.91[ASN][1000 genomes]
rs227658	0.93[ASN][1000 genomes]
rs227659	0.91[ASN][1000 genomes]
rs2387365	0.81[ASN][1000 genomes]
rs2387366	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424691	0.93[ASN][1000 genomes]
rs2892279	0.98[ASN][1000 genomes]
rs34419834	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273288	0.84[ASN][1000 genomes]
rs4527284	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4539860	0.86[ASN][1000 genomes]
rs45468392	0.91[ASN][1000 genomes]
rs45556041	0.91[ASN][1000 genomes]
rs4594518	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4813541	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813542	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815327	0.84[ASN][1000 genomes]
rs4815337	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815339	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4815340	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815341	0.98[ASN][1000 genomes]
rs4815351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4815355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815357	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56312312	0.88[ASN][1000 genomes]
rs57265446	0.84[ASN][1000 genomes]
rs58244398	0.86[ASN][1000 genomes]
rs6036976	0.84[ASN][1000 genomes]
rs6050134	0.82[ASN][1000 genomes]
rs6050177	0.98[ASN][1000 genomes]
rs6050179	0.98[ASN][1000 genomes]
rs6050181	0.98[ASN][1000 genomes]
rs6050198	0.84[ASN][1000 genomes]
rs6050201	0.98[ASN][1000 genomes]
rs6083684	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083685	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083686	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083688	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083692	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083709	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6106975	0.98[ASN][1000 genomes]
rs6106984	0.88[ASN][1000 genomes]
rs6114980	0.88[ASN][1000 genomes]
rs6114981	0.88[ASN][1000 genomes]
rs6114984	0.88[ASN][1000 genomes]
rs6114988	0.88[ASN][1000 genomes]
rs6114992	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6132773	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132774	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132775	0.91[ASN][1000 genomes]
rs6132777	0.91[ASN][1000 genomes]
rs6132778	0.91[ASN][1000 genomes]
rs6138406	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6138417	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138423	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138425	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6138426	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6138427	0.85[EUR][1000 genomes]
rs6138431	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6138435	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138438	0.91[ASN][1000 genomes]
rs6138442	0.86[ASN][1000 genomes]
rs6138453	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6138455	0.86[ASN][1000 genomes]
rs6138456	0.86[ASN][1000 genomes]
rs6138457	0.86[ASN][1000 genomes]
rs6138458	0.88[ASN][1000 genomes]
rs6138461	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62215110	0.91[ASN][1000 genomes]
rs62215115	0.91[ASN][1000 genomes]
rs62215128	0.86[ASN][1000 genomes]
rs62215131	0.86[ASN][1000 genomes]
rs6707	0.91[ASN][1000 genomes]
rs7268095	0.88[ASN][1000 genomes]
rs7269416	0.88[ASN][1000 genomes]
rs735886	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8125909	0.86[ASN][1000 genomes]
rs8183891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs914314	0.81[ASN][1000 genomes]
rs926661	0.98[ASN][1000 genomes]
rs926662	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv2762068	chr20:24908860-24974986	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv585745	chr20:24932028-25007089	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24935200-24957600	Strong transcription	Liver	Liver
2	chr20:24935200-24971800	Weak transcription	K562	blood
3	chr20:24937400-24957200	Strong transcription	HepG2	liver
4	chr20:24942000-24972400	Weak transcription	Fetal Heart	heart
5	chr20:24942800-24961600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr20:24943200-24965000	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr20:24944400-24958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:24944800-24960600	Weak transcription	Stomach Mucosa	stomach
9	chr20:24950000-24966400	Weak transcription	Small Intestine	intestine
10	chr20:24950800-24961000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:24951600-24960400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
12	chr20:24952600-24957200	Strong transcription	Primary B cells from cord blood	blood
13	chr20:24952800-24961000	Weak transcription	NHDF-Ad	bronchial
14	chr20:24953200-24962200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr20:24953600-24958000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:24953600-24960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:24953600-24960800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr20:24953600-24972000	Weak transcription	NH-A	brain
19	chr20:24953800-24957600	Weak transcription	Fetal Brain Male	brain
20	chr20:24954000-24957200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:24954000-24960600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr20:24954000-24961000	Weak transcription	Colon Smooth Muscle	Colon
23	chr20:24954200-24957200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr20:24954200-24957200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr20:24954200-24957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr20:24954200-24957400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr20:24954200-24957400	Weak transcription	Brain Substantia Nigra	brain
28	chr20:24954200-24958000	Weak transcription	Colonic Mucosa	Colon
29	chr20:24954200-24958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:24954200-24958600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr20:24954200-24958800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr20:24954200-24959800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr20:24954200-24959800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr20:24954200-24960000	Weak transcription	Gastric	stomach
35	chr20:24954200-24960800	Weak transcription	HMEC	breast
36	chr20:24954200-24960800	Weak transcription	NHEK	skin
37	chr20:24954200-24961000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr20:24954200-24961000	Weak transcription	HSMMtube	muscle
39	chr20:24954200-24961800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr20:24954200-24965800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr20:24954400-24957200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr20:24954400-24957200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr20:24954400-24957400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr20:24954400-24957800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr20:24954400-24957800	Weak transcription	Fetal Stomach	stomach
46	chr20:24954400-24958000	Weak transcription	Fetal Intestine Small	intestine
47	chr20:24954400-24960000	Weak transcription	Pancreas	Pancrea
48	chr20:24954400-24961000	Weak transcription	NHLF	lung
49	chr20:24954600-24957200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:24954600-24957200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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