Variant report

Variant	rs62030191
Chromosome Location	chr15:76500576-76500577
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	chr15:76487953..76490483-chr15:76500123..76503783,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11854972	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856244	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11856470	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857880	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469208	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831300	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923544	0.93[EUR][1000 genomes]
rs56110707	0.81[EUR][1000 genomes]
rs56220133	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233972	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313024	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59691037	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60261704	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027004	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027007	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027010	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027014	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027016	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027019	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027054	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027059	0.86[AMR][1000 genomes]
rs62028361	0.86[AMR][1000 genomes]
rs62030162	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62030163	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62030166	0.81[EUR][1000 genomes]
rs62030167	0.81[EUR][1000 genomes]
rs62030169	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62030170	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62030172	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030183	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030184	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030186	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62030234	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030240	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495195	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167004	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7175022	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736846	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736862	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736888	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736892	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73448114	0.86[AMR][1000 genomes]
rs8042654	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[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	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1054713	chr15:76460462-76505906	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv3442211	chr15:76500559-76500913	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76484000-76500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:76486800-76503000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:76486800-76516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:76489400-76502800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:76489400-76519800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:76489600-76501800	Weak transcription	GM12878-XiMat	blood
7	chr15:76489600-76503000	Weak transcription	Small Intestine	intestine
8	chr15:76490000-76503600	Weak transcription	HUVEC	blood vessel
9	chr15:76490400-76501600	Weak transcription	Primary B cells from cord blood	blood
10	chr15:76491200-76500600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:76491400-76502800	Weak transcription	HMEC	breast
12	chr15:76492000-76502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:76492000-76502000	Weak transcription	Aorta	Aorta
14	chr15:76492000-76502000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:76492000-76503600	Weak transcription	NHDF-Ad	bronchial
16	chr15:76492000-76509600	Weak transcription	K562	blood
17	chr15:76492400-76503200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:76492400-76503200	Weak transcription	NHLF	lung
19	chr15:76492400-76503200	Weak transcription	Osteobl	bone
20	chr15:76492400-76510000	Strong transcription	Placenta	Placenta
21	chr15:76492600-76501200	Weak transcription	HSMM	muscle
22	chr15:76492600-76507000	Weak transcription	NH-A	brain
23	chr15:76492800-76506200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:76492800-76517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr15:76492800-76526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:76493000-76504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:76493200-76507800	Strong transcription	Fetal Stomach	stomach
28	chr15:76493400-76504400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:76493600-76501000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:76493600-76506800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:76493600-76526400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:76494600-76510400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:76495400-76510400	Strong transcription	Adipose Nuclei	Adipose
34	chr15:76495800-76501600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:76495800-76501600	Weak transcription	Dnd41	blood
36	chr15:76495800-76508600	Strong transcription	A549	lung
37	chr15:76496200-76503000	Weak transcription	HSMMtube	muscle
38	chr15:76496200-76510400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:76496400-76502400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:76497000-76518200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr15:76497400-76509400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:76497600-76505600	Weak transcription	Ovary	ovary
43	chr15:76498000-76502000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:76498200-76501400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:76498200-76506400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:76498200-76508800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr15:76498200-76509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:76498200-76510200	Strong transcription	Fetal Intestine Large	intestine
49	chr15:76498200-76511000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr15:76498200-76511600	Strong transcription	Primary T cells from cord blood	blood

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