Variant report

Variant	rs694949
Chromosome Location	chr15:58738075-58738076
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	chr15:58737118..58738691-chr15:58740817..58742511,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16940308	1.00[ASN][1000 genomes]
rs474074	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488346	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497381	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515889	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574104	0.90[EUR][1000 genomes]
rs689314	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694954	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58728800-58738200	Enhancers	Fetal Thymus	thymus
2	chr15:58730400-58746200	Weak transcription	GM12878-XiMat	blood
3	chr15:58731800-58739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:58733200-58739600	Weak transcription	Fetal Kidney	kidney
5	chr15:58733400-58738600	Weak transcription	Lung	lung
6	chr15:58734200-58739800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:58734400-58739400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:58734400-58739600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:58734400-58739800	Weak transcription	Brain Anterior Caudate	brain
10	chr15:58734400-58740400	Weak transcription	Pancreas	Pancrea
11	chr15:58734600-58738800	Weak transcription	Thymus	Thymus
12	chr15:58734600-58739400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:58734600-58739800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:58734800-58738800	Weak transcription	HSMM	muscle
15	chr15:58734800-58739400	Weak transcription	HSMMtube	muscle
16	chr15:58734800-58739400	Weak transcription	Osteobl	bone
17	chr15:58735000-58740200	Weak transcription	Small Intestine	intestine
18	chr15:58735400-58740400	Weak transcription	Colonic Mucosa	Colon
19	chr15:58735600-58738600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:58735800-58738600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:58735800-58738800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:58735800-58739400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:58736600-58746200	Weak transcription	Spleen	Spleen
24	chr15:58736800-58738600	Weak transcription	NHDF-Ad	bronchial
25	chr15:58736800-58739400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:58736800-58739400	Weak transcription	NHLF	lung
27	chr15:58736800-58740200	Weak transcription	Fetal Intestine Large	intestine
28	chr15:58737000-58739400	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:58737000-58739600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:58737200-58739400	Weak transcription	Stomach Mucosa	stomach
31	chr15:58737200-58740200	Weak transcription	Fetal Intestine Small	intestine
32	chr15:58737400-58739400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:58737400-58749800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:58737400-58761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:58737600-58738800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:58737600-58739400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:58737600-58739400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:58737600-58739600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:58737800-58738600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:58737800-58738800	Weak transcription	Gastric	stomach
41	chr15:58737800-58739200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:58737800-58739400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:58737800-58739400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:58737800-58739400	Weak transcription	Esophagus	oesophagus
45	chr15:58737800-58739400	Weak transcription	Right Atrium	heart
46	chr15:58737800-58739600	Weak transcription	Adipose Nuclei	Adipose
47	chr15:58737800-58740000	Weak transcription	HepG2	liver
48	chr15:58737800-58740600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:58737800-58746600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:58737800-58748200	Weak transcription	Left Ventricle	heart

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