Variant report

Variant	rs2601019
Chromosome Location	chr15:43684611-43684612
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1814540	0.82[AFR][1000 genomes]
rs2245161	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247734	0.89[AFR][1000 genomes]
rs2249948	0.89[AFR][1000 genomes]
rs2264051	1.00[AMR][1000 genomes]
rs2444248	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes]
rs2447214	1.00[AMR][1000 genomes]
rs28370962	1.00[AMR][1000 genomes]
rs492046	1.00[AMR][1000 genomes]
rs509037	1.00[AMR][1000 genomes]
rs509197	0.89[AFR][1000 genomes]
rs555252	0.89[AFR][1000 genomes]
rs559805	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56329224	1.00[AMR][1000 genomes]
rs567249	1.00[AMR][1000 genomes]
rs59083674	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs690262	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7173990	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74009133	1.00[AMR][1000 genomes]
rs933942	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43664000-43692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:43664600-43687800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:43664600-43688000	Weak transcription	Stomach Mucosa	stomach
4	chr15:43664600-43695600	Weak transcription	Fetal Heart	heart
5	chr15:43665000-43687800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:43665000-43730000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:43665200-43686600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:43668000-43717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:43668200-43702200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:43668200-43732800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:43670600-43703200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:43671400-43686600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:43675800-43687000	Weak transcription	NHDF-Ad	bronchial
15	chr15:43676800-43695600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:43677400-43686000	Weak transcription	Fetal Lung	lung
17	chr15:43678000-43687000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:43678200-43686800	Weak transcription	A549	lung
19	chr15:43678200-43686800	Weak transcription	Osteobl	bone
20	chr15:43678200-43688800	Weak transcription	Fetal Brain Male	brain
21	chr15:43678400-43686400	Weak transcription	Gastric	stomach
22	chr15:43678400-43687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:43678400-43688000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:43678400-43689200	Weak transcription	HUVEC	blood vessel
25	chr15:43678400-43693800	Weak transcription	Small Intestine	intestine
26	chr15:43678600-43686000	Weak transcription	Fetal Kidney	kidney
27	chr15:43678600-43686400	Weak transcription	Pancreas	Pancrea
28	chr15:43678600-43686800	Weak transcription	NHEK	skin
29	chr15:43678600-43687200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:43678600-43687800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:43678800-43686800	Weak transcription	Colonic Mucosa	Colon
32	chr15:43679200-43686800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr15:43679600-43686600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:43679600-43686800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:43679600-43686800	Weak transcription	HSMMtube	muscle
36	chr15:43679600-43686800	Weak transcription	NH-A	brain
37	chr15:43679600-43687000	Weak transcription	Brain Angular Gyrus	brain
38	chr15:43679600-43687000	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:43679600-43687600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:43679600-43687800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr15:43679600-43688000	Weak transcription	HSMM	muscle
42	chr15:43679800-43686800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:43679800-43686800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:43679800-43686800	Weak transcription	GM12878-XiMat	blood
45	chr15:43680000-43685000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:43680200-43686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:43680200-43686800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:43680200-43687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:43680400-43684800	Weak transcription	Lung	lung
50	chr15:43680400-43686600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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