Variant report

Variant	rs1912397
Chromosome Location	chr15:56171233-56171234
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10518823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12898478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12899701	0.85[EUR][1000 genomes]
rs12901802	0.91[EUR][1000 genomes]
rs12902173	0.91[EUR][1000 genomes]
rs12904236	0.91[EUR][1000 genomes]
rs12906245	0.84[EUR][1000 genomes]
rs12906350	0.84[EUR][1000 genomes]
rs12908286	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12908466	0.85[EUR][1000 genomes]
rs12911101	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12911380	0.83[AMR][1000 genomes]
rs12913220	0.84[EUR][1000 genomes]
rs17819270	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1912403	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2899593	0.85[EUR][1000 genomes]
rs34162982	0.91[EUR][1000 genomes]
rs34223710	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34333169	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34652186	0.91[EUR][1000 genomes]
rs34718758	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34727807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34995202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35086304	0.91[EUR][1000 genomes]
rs35142499	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35313340	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35759462	0.84[EUR][1000 genomes]
rs4296197	0.91[EUR][1000 genomes]
rs66857236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67046147	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67825863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71476753	0.91[EUR][1000 genomes]
rs71476755	0.91[EUR][1000 genomes]
rs71476760	0.91[EUR][1000 genomes]
rs7172454	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8033157	0.81[EUR][1000 genomes]
rs8038204	0.91[EUR][1000 genomes]
rs8039617	0.91[EUR][1000 genomes]
rs8042074	0.91[EUR][1000 genomes]
rs8042216	0.91[EUR][1000 genomes]
rs8043427	0.91[EUR][1000 genomes]
rs906811	0.91[EUR][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	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv2761966	chr15:56167250-56192861	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56148200-56174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:56149000-56177600	Weak transcription	Spleen	Spleen
3	chr15:56152800-56174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:56153000-56174000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:56153000-56174400	Weak transcription	HSMMtube	muscle
6	chr15:56153000-56174800	Weak transcription	Fetal Intestine Small	intestine
7	chr15:56153000-56176400	Weak transcription	Esophagus	oesophagus
8	chr15:56153600-56178600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:56155400-56174800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:56155400-56175600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:56158200-56176400	Weak transcription	Left Ventricle	heart
12	chr15:56161200-56174400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:56161200-56179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:56161400-56174400	Weak transcription	NHEK	skin
15	chr15:56161400-56174600	Weak transcription	Primary T cells from cord blood	blood
16	chr15:56161400-56177400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:56161800-56174200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:56163400-56174600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:56163600-56174400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:56165200-56174200	Weak transcription	Liver	Liver
21	chr15:56165200-56174200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:56165600-56174800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:56166000-56171400	Weak transcription	HUVEC	blood vessel
24	chr15:56166000-56174400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:56166000-56185400	Weak transcription	Hela-S3	cervix
26	chr15:56167800-56176200	Weak transcription	Psoas Muscle	Psoas
27	chr15:56170200-56174400	Weak transcription	HSMM	muscle
28	chr15:56170600-56171400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:56171000-56171400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:56171000-56171400	Active TSS	A549	lung
31	chr15:56171200-56171400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr15:56171200-56171600	Enhancers	Aorta	Aorta
33	chr15:56171200-56172000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:56171200-56172000	Enhancers	Osteobl	bone

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