Variant report

Variant	rs6495267
Chromosome Location	chr15:79057093-79057094
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	chr15:79047462..79049976-chr15:79054585..79057196,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11630236	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11633351	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11635870	0.97[AFR][1000 genomes]
rs11635931	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12286	0.82[ASN][1000 genomes]
rs12898323	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12898346	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12906653	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12916326	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12916648	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1807006	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1809409	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1809419	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1809420	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1810165	0.80[EUR][1000 genomes]
rs4887090	0.82[ASN][1000 genomes]
rs4887095	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887096	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55834964	0.82[ASN][1000 genomes]
rs8043119	0.97[AFR][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79040600-79060000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
3	chr15:79044200-79059000	Enhancers	Fetal Muscle Trunk	muscle
4	chr15:79045000-79059000	Enhancers	Fetal Muscle Leg	muscle
5	chr15:79046400-79063200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:79049200-79058600	Enhancers	Spleen	Spleen
7	chr15:79050000-79058600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:79051800-79070600	Weak transcription	Fetal Brain Female	brain
9	chr15:79052800-79070600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:79052800-79070800	Weak transcription	Ovary	ovary
11	chr15:79052800-79071000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:79053200-79063200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:79053200-79063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:79053200-79071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:79053800-79058600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:79054000-79068600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:79054000-79083200	Weak transcription	Fetal Intestine Small	intestine
18	chr15:79054200-79060000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:79054400-79070600	Weak transcription	HSMM	muscle
20	chr15:79054600-79058400	Weak transcription	Fetal Heart	heart
21	chr15:79054600-79060000	Weak transcription	HSMMtube	muscle
22	chr15:79054600-79064000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:79054600-79070000	Weak transcription	Fetal Lung	lung
24	chr15:79054600-79070400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:79054800-79070600	Weak transcription	Adipose Nuclei	Adipose
26	chr15:79055000-79057800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:79055000-79063000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:79055000-79069800	Weak transcription	Left Ventricle	heart
29	chr15:79055000-79076400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:79055600-79057200	Enhancers	Primary B cells from cord blood	blood
31	chr15:79055800-79057400	Enhancers	Esophagus	oesophagus
32	chr15:79055800-79070000	Weak transcription	Lung	lung
33	chr15:79056000-79057200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:79056000-79058000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:79056000-79060000	Strong transcription	Fetal Stomach	stomach
36	chr15:79056200-79057600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:79056200-79057600	Enhancers	HMEC	breast
38	chr15:79056200-79058000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:79056200-79058000	Enhancers	Brain Hippocampus Middle	brain
40	chr15:79056400-79057200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:79056400-79057400	Enhancers	Brain Cingulate Gyrus	brain
42	chr15:79056400-79059800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:79056400-79063200	Weak transcription	Right Ventricle	heart
44	chr15:79056600-79057600	Enhancers	Brain Substantia Nigra	brain
45	chr15:79056600-79070600	Weak transcription	Right Atrium	heart
46	chr15:79056800-79058600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr15:79057000-79057800	Enhancers	Brain Angular Gyrus	brain
48	chr15:79057000-79057800	Enhancers	Brain Anterior Caudate	brain
49	chr15:79057000-79060600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:79057000-79076400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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