Variant report

Variant	rs6493639
Chromosome Location	chr15:31686127-31686128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10047980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10851546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11071016	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4261489	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4328401	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4354896	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4389106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4586393	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4779873	0.86[CEU][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4779874	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62037901	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6493635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6493659	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7165145	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7171213	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7174005	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7175258	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7402619	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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 target site	46 gene(s)	inside rSNPs	diseases
7	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv903841	chr15:31616674-31697242	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv903842	chr15:31621321-31697242	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv456748	chr15:31621321-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv568801	chr15:31621321-31697642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv1810782	chr15:31633161-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv903843	chr15:31672947-31723279	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31684000-31686200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:31684800-31688800	Weak transcription	Fetal Heart	heart
3	chr15:31685000-31688000	Weak transcription	A549	lung
4	chr15:31685000-31688000	Weak transcription	Hela-S3	cervix
5	chr15:31685000-31688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:31685000-31689600	Weak transcription	HSMM	muscle
7	chr15:31685200-31686200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:31685200-31686200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:31685200-31689400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:31685200-31689600	Weak transcription	Brain Angular Gyrus	brain
11	chr15:31685200-31689600	Weak transcription	Psoas Muscle	Psoas
12	chr15:31685400-31686200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr15:31685400-31686200	Flanking Active TSS	Dnd41	blood
14	chr15:31685400-31688600	Weak transcription	HUVEC	blood vessel
15	chr15:31685400-31688800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:31685400-31688800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:31685400-31688800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:31685400-31688800	Weak transcription	Liver	Liver
19	chr15:31685400-31688800	Weak transcription	HMEC	breast
20	chr15:31685400-31688800	Weak transcription	NHDF-Ad	bronchial
21	chr15:31685400-31688800	Weak transcription	Osteobl	bone
22	chr15:31685400-31689000	Weak transcription	NHEK	skin
23	chr15:31685400-31689000	Weak transcription	NHLF	lung
24	chr15:31685400-31689200	Weak transcription	Left Ventricle	heart
25	chr15:31685400-31689200	Weak transcription	Ovary	ovary
26	chr15:31685400-31689600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:31685400-31689600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:31685400-31689600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:31685400-31689600	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:31685400-31689800	Weak transcription	Small Intestine	intestine
31	chr15:31685400-31690200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:31685600-31686200	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:31685600-31686200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:31685600-31686200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr15:31685600-31686200	Enhancers	Lung	lung
36	chr15:31685600-31686200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr15:31685600-31688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:31685600-31688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:31685600-31689000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr15:31685600-31689000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:31685600-31689600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:31685600-31689600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:31685600-31689600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:31685600-31689600	Weak transcription	Brain Anterior Caudate	brain
45	chr15:31685600-31689600	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:31685600-31689600	Weak transcription	Right Atrium	heart
47	chr15:31685600-31689600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:31685800-31686200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr15:31685800-31686200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr15:31685800-31686200	Enhancers	Primary B cells from peripheral blood	blood

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