Variant report

Variant	rs2593245
Chromosome Location	chr15:57459862-57459863
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	chr15:57455822..57459660-chr15:57459793..57463259,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2243575	1.00[AMR][1000 genomes]
rs2245616	1.00[YRI][hapmap]
rs2252366	1.00[YRI][hapmap]
rs2435899	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2435904	1.00[YRI][hapmap]
rs2439924	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2544128	1.00[YRI][hapmap]
rs2566847	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2585079	1.00[AMR][1000 genomes]
rs2585085	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2585095	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2585101	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2585109	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2585113	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2591073	1.00[YRI][hapmap]
rs2593247	0.85[AFR][1000 genomes]
rs2593248	0.85[AFR][1000 genomes]
rs2593253	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2615234	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2615239	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615245	0.85[AFR][1000 genomes]
rs2615247	1.00[AMR][1000 genomes]
rs2703581	1.00[AMR][1000 genomes]
rs2703585	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2703611	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703617	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703621	1.00[AMR][1000 genomes]
rs2733173	1.00[YRI][hapmap]
rs2733175	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2733184	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733308	1.00[AMR][1000 genomes]
rs2733338	1.00[AMR][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	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
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57439000-57463400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:57444400-57485600	Weak transcription	Placenta	Placenta
4	chr15:57444400-57507400	Weak transcription	K562	blood
5	chr15:57444600-57490200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:57444800-57484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:57444800-57484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:57445000-57461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:57445200-57466000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:57445400-57478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:57445600-57461400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr15:57446000-57468400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:57447000-57484600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:57447800-57466000	Weak transcription	Pancreas	Pancrea
15	chr15:57448000-57465600	Weak transcription	Right Ventricle	heart
16	chr15:57448000-57483800	Weak transcription	Lung	lung
17	chr15:57448800-57460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:57448800-57463400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:57450800-57469000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:57450800-57491000	Weak transcription	Left Ventricle	heart
21	chr15:57451000-57464400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:57451000-57477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:57451000-57487800	Weak transcription	Psoas Muscle	Psoas
24	chr15:57451000-57490800	Weak transcription	NHEK	skin
25	chr15:57451200-57463600	Weak transcription	Hela-S3	cervix
26	chr15:57451200-57470200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:57451200-57475000	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:57451200-57475400	Weak transcription	Adipose Nuclei	Adipose
29	chr15:57451200-57478600	Weak transcription	HMEC	breast
30	chr15:57451200-57484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:57451200-57484200	Weak transcription	Esophagus	oesophagus
32	chr15:57451200-57490400	Weak transcription	Ovary	ovary
33	chr15:57451400-57463200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:57451400-57463600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:57451600-57491200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:57451800-57478400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:57452200-57481600	Weak transcription	Fetal Heart	heart
38	chr15:57452400-57465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:57452400-57475400	Weak transcription	Fetal Lung	lung
40	chr15:57452400-57490400	Weak transcription	Fetal Brain Female	brain
41	chr15:57452600-57460400	Weak transcription	Brain Substantia Nigra	brain
42	chr15:57452800-57460800	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:57452800-57470800	Weak transcription	Brain Anterior Caudate	brain
44	chr15:57453400-57464600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:57453400-57465200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:57453800-57485400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:57454000-57465000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:57454000-57465000	Weak transcription	NHDF-Ad	bronchial
50	chr15:57455800-57460000	Weak transcription	HepG2	liver

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