Variant report

Variant	rs2593247
Chromosome Location	chr15:57453187-57453188
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	chr15:57445851..57448628-chr15:57452801..57454618,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2243575	0.86[AFR][1000 genomes]
rs2435898	0.87[AFR][1000 genomes]
rs2435899	0.93[AFR][1000 genomes]
rs2439924	0.93[AFR][1000 genomes]
rs2585079	0.93[AFR][1000 genomes]
rs2585085	0.86[AFR][1000 genomes]
rs2585095	0.86[AFR][1000 genomes]
rs2585101	0.86[AFR][1000 genomes]
rs2593245	0.85[AFR][1000 genomes]
rs2593253	1.00[AFR][1000 genomes]
rs2615234	0.86[AFR][1000 genomes]
rs2615239	0.85[AFR][1000 genomes]
rs2615241	0.82[AFR][1000 genomes]
rs2615245	1.00[AFR][1000 genomes]
rs2615248	0.93[AFR][1000 genomes]
rs2703591	0.86[AFR][1000 genomes]
rs2703611	1.00[AFR][1000 genomes]
rs2703615	0.93[AFR][1000 genomes]
rs2703617	0.85[AFR][1000 genomes]
rs2733338	0.93[AFR][1000 genomes]
rs2733344	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv977056	chr15:57451639-57455991	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:94 , 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	chr15:57439400-57456000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:57444200-57456600	Strong transcription	Fetal Thymus	thymus
5	chr15:57444400-57459000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:57444400-57459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:57444400-57485600	Weak transcription	Placenta	Placenta
8	chr15:57444400-57507400	Weak transcription	K562	blood
9	chr15:57444600-57455600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:57444600-57458000	Weak transcription	Dnd41	blood
11	chr15:57444600-57458400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:57444600-57459000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr15:57444600-57459600	Weak transcription	Liver	Liver
14	chr15:57444600-57490200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr15:57444800-57458600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:57444800-57458800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:57444800-57458800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr15:57444800-57484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:57444800-57484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:57445000-57455600	Weak transcription	Primary T cells from cord blood	blood
21	chr15:57445000-57461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:57445200-57466000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:57445400-57458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:57445400-57478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:57445600-57455800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:57445600-57458800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:57445600-57459000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:57445600-57461400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr15:57446000-57455600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr15:57446000-57455600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr15:57446000-57468400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:57446200-57458800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:57446600-57455600	Weak transcription	Primary B cells from cord blood	blood
34	chr15:57446600-57459600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:57446800-57455000	Weak transcription	GM12878-XiMat	blood
36	chr15:57447000-57484600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:57447200-57458200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:57447800-57466000	Weak transcription	Pancreas	Pancrea
39	chr15:57448000-57465600	Weak transcription	Right Ventricle	heart
40	chr15:57448000-57483800	Weak transcription	Lung	lung
41	chr15:57448800-57460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:57448800-57463400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr15:57449000-57458600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:57450200-57454000	Enhancers	NHDF-Ad	bronchial
45	chr15:57450200-57454400	Enhancers	Osteobl	bone
46	chr15:57450400-57453400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:57450400-57454000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:57450400-57454400	Enhancers	NHLF	lung
49	chr15:57450600-57453200	Enhancers	Brain Germinal Matrix	brain
50	chr15:57450800-57459400	Weak transcription	Fetal Muscle Trunk	muscle

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