Variant report

Variant	rs483140
Chromosome Location	chr15:58737135-58737136
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58737118..58738691-chr15:58740817..58742511,2	K562	blood:
2	chr15:58731261..58732919-chr15:58735065..58738026,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10152202	0.85[CHB][hapmap]
rs17190538	0.85[CHB][hapmap]
rs35470847	0.82[ASN][1000 genomes]
rs563186	0.91[EUR][1000 genomes]
rs567838	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs568780	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs634744	0.90[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv904267	chr15:58699010-58769583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1047048	chr15:58701400-58784800	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1043362	chr15:58726337-58756571	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv457173	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv569600	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv1794723	chr15:58732468-58739413	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58726400-58737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:58728800-58738200	Enhancers	Fetal Thymus	thymus
3	chr15:58729800-58737800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:58730000-58737800	Enhancers	HepG2	liver
5	chr15:58730400-58737800	Enhancers	Right Atrium	heart
6	chr15:58730400-58738000	Enhancers	Liver	Liver
7	chr15:58730400-58746200	Weak transcription	GM12878-XiMat	blood
8	chr15:58730800-58737800	Enhancers	Left Ventricle	heart
9	chr15:58731200-58737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:58731200-58737600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr15:58731200-58737800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:58731600-58737200	Enhancers	Stomach Mucosa	stomach
13	chr15:58731800-58739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:58732000-58737200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr15:58732400-58737800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:58733200-58739600	Weak transcription	Fetal Kidney	kidney
17	chr15:58733400-58738600	Weak transcription	Lung	lung
18	chr15:58734200-58739800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:58734400-58739400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:58734400-58739600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:58734400-58739800	Weak transcription	Brain Anterior Caudate	brain
22	chr15:58734400-58740400	Weak transcription	Pancreas	Pancrea
23	chr15:58734600-58737600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:58734600-58738800	Weak transcription	Thymus	Thymus
25	chr15:58734600-58739400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:58734600-58739800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:58734800-58737600	Enhancers	NHEK	skin
28	chr15:58734800-58737800	Enhancers	Esophagus	oesophagus
29	chr15:58734800-58738800	Weak transcription	HSMM	muscle
30	chr15:58734800-58739400	Weak transcription	HSMMtube	muscle
31	chr15:58734800-58739400	Weak transcription	Osteobl	bone
32	chr15:58735000-58740200	Weak transcription	Small Intestine	intestine
33	chr15:58735200-58737400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:58735200-58737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:58735200-58737800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:58735400-58737200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:58735400-58737400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:58735400-58737600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr15:58735400-58740400	Weak transcription	Colonic Mucosa	Colon
40	chr15:58735600-58737200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr15:58735600-58737200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr15:58735600-58737800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr15:58735600-58737800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:58735600-58738600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:58735800-58738600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:58735800-58738800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:58735800-58739400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:58736200-58737200	Enhancers	Fetal Intestine Small	intestine
49	chr15:58736200-58737200	Enhancers	Fetal Lung	lung
50	chr15:58736200-58737400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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