Variant report

Variant	rs12593585
Chromosome Location	chr15:57216429-57216430
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	chr15:57215422..57217856-chr15:57225443..57228595,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12593613	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594574	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16953313	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16977152	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16977165	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16977226	1.00[EUR][1000 genomes]
rs213150	0.81[ASN][1000 genomes]
rs35615435	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803456	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56193354	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57722526	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58121543	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58169256	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60056005	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60219100	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60972002	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61382868	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74018413	1.00[EUR][1000 genomes]
rs74018420	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74018424	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74018426	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74018429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74018439	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74018441	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74018460	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57209400-57217200	Active TSS	Thymus	Thymus
2	chr15:57212400-57218200	Weak transcription	Small Intestine	intestine
3	chr15:57212400-57219000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:57212400-57222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:57212400-57224800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:57212400-57224800	Weak transcription	Spleen	Spleen
7	chr15:57212400-57230400	Weak transcription	Lung	lung
8	chr15:57212400-57233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
10	chr15:57212600-57218200	Weak transcription	Aorta	Aorta
11	chr15:57212600-57224000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:57212600-57241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:57212800-57218200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:57212800-57218600	Weak transcription	Fetal Stomach	stomach
15	chr15:57212800-57219200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:57212800-57220200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr15:57212800-57220600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:57212800-57222200	Weak transcription	Left Ventricle	heart
19	chr15:57212800-57222200	Weak transcription	Psoas Muscle	Psoas
20	chr15:57212800-57222200	Weak transcription	Right Ventricle	heart
21	chr15:57212800-57222400	Weak transcription	Ovary	ovary
22	chr15:57212800-57224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:57212800-57227200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:57213000-57216800	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:57213000-57218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr15:57213000-57219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:57213000-57220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:57213000-57222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:57213000-57222400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:57213000-57227400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:57213200-57216600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:57213200-57218600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:57213200-57218600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:57213200-57221000	Weak transcription	Adipose Nuclei	Adipose
35	chr15:57213200-57221200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:57213200-57223400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:57213200-57256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:57213400-57217000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:57213400-57217600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:57213400-57218200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:57213400-57219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:57213400-57219000	Weak transcription	HSMMtube	muscle
43	chr15:57213400-57220200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:57213400-57220200	Weak transcription	NHEK	skin
45	chr15:57213400-57223200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:57213400-57226800	Weak transcription	Brain Germinal Matrix	brain
47	chr15:57213600-57218200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:57213600-57218200	Strong transcription	Placenta	Placenta
49	chr15:57213600-57219000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:57214000-57216600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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