Variant report

Variant	rs8042654
Chromosome Location	chr15:76562738-76562739
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	chr15:76561447..76562984-chr15:76571466..76573118,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1047357	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11854285	0.85[CEU][hapmap]
rs11854972	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857880	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437866	0.88[YRI][hapmap]
rs12441111	0.88[YRI][hapmap]
rs2469208	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469560	1.00[CHD][hapmap]
rs55831300	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55923544	0.84[AMR][1000 genomes]
rs56220133	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233972	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313024	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59691037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60060261	0.82[AFR][1000 genomes]
rs60261704	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027004	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027007	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027014	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027016	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027019	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027059	0.86[EUR][1000 genomes]
rs62030172	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62030183	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62030184	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030186	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030187	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030191	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030230	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62030234	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030240	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495195	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7166675	0.92[AFR][1000 genomes]
rs7167004	1.00[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7169825	0.86[ASW][hapmap]
rs7171795	0.90[MKK][hapmap];0.88[YRI][hapmap]
rs7174835	0.86[ASW][hapmap]
rs7175022	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175442	0.88[AFR][1000 genomes]
rs72736846	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72736862	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736888	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736892	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033926	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs8038885	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv527608	chr15:76530267-76562738	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76550400-76563000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:76550600-76563000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr15:76550600-76563200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:76550600-76563400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:76550600-76563400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:76550600-76563600	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr15:76550600-76564000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr15:76550600-76578400	Strong transcription	Liver	Liver
9	chr15:76553400-76562800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:76553400-76563200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr15:76553600-76563200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:76553800-76564200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:76554000-76563800	ZNF genes & repeats	Dnd41	blood
14	chr15:76554600-76563000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr15:76555000-76563200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:76555200-76562800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:76555800-76563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:76555800-76564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:76555800-76564400	Weak transcription	Right Ventricle	heart
20	chr15:76555800-76567200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:76555800-76574200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr15:76555800-76578800	Weak transcription	Psoas Muscle	Psoas
23	chr15:76555800-76579000	Weak transcription	NHLF	lung
24	chr15:76555800-76586000	Weak transcription	Stomach Mucosa	stomach
25	chr15:76556000-76563600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:76556000-76564000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:76556200-76563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:76556200-76565200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:76556200-76569800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:76556400-76581400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:76556800-76594600	Weak transcription	Esophagus	oesophagus
32	chr15:76557000-76567200	Strong transcription	Hela-S3	cervix
33	chr15:76557000-76582800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:76557200-76563200	ZNF genes & repeats	GM12878-XiMat	blood
35	chr15:76557600-76573400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr15:76558000-76564400	Weak transcription	NHDF-Ad	bronchial
37	chr15:76558000-76603000	Weak transcription	Aorta	Aorta
38	chr15:76558200-76565000	Strong transcription	Primary T cells from cord blood	blood
39	chr15:76558400-76568200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:76558800-76563000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr15:76559200-76562800	Strong transcription	Placenta	Placenta
42	chr15:76559600-76562800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr15:76559600-76564600	Strong transcription	K562	blood
44	chr15:76559600-76566600	Weak transcription	HUVEC	blood vessel
45	chr15:76559800-76563200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:76559800-76563200	Strong transcription	HSMMtube	muscle
47	chr15:76559800-76564000	Strong transcription	HepG2	liver
48	chr15:76560000-76563000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:76560000-76563800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr15:76560000-76565200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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