Variant report

Variant	rs12440951
Chromosome Location	chr15:73058786-73058787
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73053401..73054936-chr15:73057984..73060322,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11072387	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12439375	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12441084	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12592955	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12594667	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594938	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16957293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012253	0.80[ASN][1000 genomes]
rs2278543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2415166	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28398258	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28502551	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3179616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34337823	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35136341	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35958407	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3759870	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4776611	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4776616	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4777528	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4777529	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4777530	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777533	0.93[ASN][1000 genomes]
rs4777537	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777538	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777540	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4777543	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4777545	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56915357	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57621041	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58600393	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59049627	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59152128	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60405894	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60601886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60674997	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61311866	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62017593	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62017598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62017623	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7178409	0.86[ASN][1000 genomes]
rs72662112	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72737337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730180	0.80[ASN][1000 genomes]
rs7495022	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8032586	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73041800-73071000	Strong transcription	Liver	Liver
2	chr15:73043400-73058800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:73043400-73058800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:73043400-73059000	Strong transcription	Fetal Intestine Small	intestine
5	chr15:73043400-73059000	Strong transcription	Left Ventricle	heart
6	chr15:73043400-73059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:73043400-73059200	Strong transcription	Fetal Intestine Large	intestine
8	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
9	chr15:73044200-73059200	Strong transcription	Primary T cells from cord blood	blood
10	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:73045200-73058800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:73045400-73059800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:73045400-73060800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr15:73045400-73066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:73045600-73067400	Strong transcription	Placenta	Placenta
18	chr15:73045800-73059200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:73046200-73059200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr15:73046600-73058800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr15:73046600-73059200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:73046800-73059000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:73046800-73060600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr15:73046800-73067600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:73049000-73059800	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:73049000-73063800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:73049200-73059000	Weak transcription	Stomach Mucosa	stomach
29	chr15:73049200-73059800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:73050400-73059200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr15:73050400-73060600	Weak transcription	Gastric	stomach
32	chr15:73051000-73059600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:73051200-73058800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:73051200-73058800	Weak transcription	Fetal Brain Female	brain
35	chr15:73051200-73058800	Weak transcription	HUVEC	blood vessel
36	chr15:73051200-73060200	Weak transcription	NH-A	brain
37	chr15:73051200-73060800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:73051200-73060800	Weak transcription	Right Ventricle	heart
39	chr15:73051200-73062600	Weak transcription	Brain Angular Gyrus	brain
40	chr15:73051200-73062600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:73051800-73058800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:73051800-73059000	Weak transcription	HMEC	breast
43	chr15:73052200-73058800	Weak transcription	NHDF-Ad	bronchial
44	chr15:73052400-73060000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:73052800-73062000	Weak transcription	Psoas Muscle	Psoas
46	chr15:73053000-73059200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:73053200-73060600	Weak transcription	Pancreas	Pancrea
48	chr15:73053200-73060800	Weak transcription	Esophagus	oesophagus
49	chr15:73053200-73061600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:73053400-73062000	Weak transcription	Brain Cingulate Gyrus	brain

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