Variant report

Variant	rs62030234
Chromosome Location	chr15:76523771-76523772
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	chr15:76515156..76518708-chr15:76522074..76525565,3	K562	blood:

Variant related genes	Relation type
ENSG00000140374	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11854972	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856244	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11856470	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857880	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469208	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831300	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923544	0.86[EUR][1000 genomes]
rs56220133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313024	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59691037	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60261704	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027004	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027007	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027010	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027014	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027016	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027019	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027054	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027059	0.86[AMR][1000 genomes]
rs62028361	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62030162	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62030163	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62030169	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62030170	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62030172	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030183	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030184	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030187	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030191	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030230	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62030240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495195	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495199	0.92[AFR][1000 genomes]
rs7167004	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7175022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177769	0.85[AFR][1000 genomes]
rs72736846	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736888	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736892	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73448114	0.86[AMR][1000 genomes]
rs8042654	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3409846	chr15:76521947-76523995	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76492800-76526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr15:76493600-76526400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr15:76499200-76527400	Weak transcription	Fetal Brain Male	brain
4	chr15:76500600-76534800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:76501200-76524200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:76503600-76551400	Weak transcription	Small Intestine	intestine
7	chr15:76506000-76526800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:76506200-76526800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:76506400-76525600	Weak transcription	Fetal Brain Female	brain
10	chr15:76507200-76551400	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:76508000-76525000	Weak transcription	NHLF	lung
12	chr15:76508000-76525400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:76508400-76546000	Weak transcription	Brain Anterior Caudate	brain
14	chr15:76508600-76525200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:76510000-76534600	Weak transcription	Brain Substantia Nigra	brain
16	chr15:76510200-76526000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:76510200-76555400	Weak transcription	Psoas Muscle	Psoas
18	chr15:76510400-76538000	Weak transcription	HUVEC	blood vessel
19	chr15:76510400-76538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:76510400-76555000	Weak transcription	NH-A	brain
21	chr15:76511800-76525400	Strong transcription	Liver	Liver
22	chr15:76512000-76525400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:76512000-76525600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:76513200-76559400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:76513400-76524800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:76513600-76523800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:76513800-76551400	Weak transcription	Stomach Mucosa	stomach
28	chr15:76514200-76525000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:76514800-76525000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr15:76515200-76523800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:76516400-76550600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:76517200-76551800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:76517400-76532600	Weak transcription	HSMM	muscle
34	chr15:76517400-76544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:76517400-76549200	Weak transcription	Fetal Kidney	kidney
36	chr15:76517400-76550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:76517400-76550600	Weak transcription	Pancreas	Pancrea
38	chr15:76517400-76559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:76517600-76526000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:76517600-76526200	Weak transcription	Brain Germinal Matrix	brain
41	chr15:76517600-76526800	Weak transcription	Esophagus	oesophagus
42	chr15:76517600-76528000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:76517600-76528400	Weak transcription	Spleen	Spleen
44	chr15:76517600-76530400	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:76517600-76550600	Weak transcription	Aorta	Aorta
46	chr15:76517600-76550600	Weak transcription	Ovary	ovary
47	chr15:76517600-76551200	Weak transcription	Right Ventricle	heart
48	chr15:76517600-76551400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:76517600-76553800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr15:76518200-76525000	Weak transcription	Primary T cells from cord blood	blood

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