Variant report

Variant	rs2250590
Chromosome Location	chr5:14861069-14861070
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2250476	1.00[EUR][1000 genomes]
rs2250599	1.00[EUR][1000 genomes]
rs2250600	1.00[EUR][1000 genomes]
rs2250628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2250716	1.00[EUR][1000 genomes]
rs2254011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2642681	1.00[EUR][1000 genomes]
rs923959	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
2	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:14830400-14866400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
5	chr5:14835600-14869000	Weak transcription	NHDF-Ad	bronchial
6	chr5:14835800-14864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:14837400-14869400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:14840200-14864600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:14844800-14869200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:14848800-14861800	Weak transcription	Adipose Nuclei	Adipose
11	chr5:14848800-14870000	Weak transcription	Thymus	Thymus
12	chr5:14849200-14869800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:14850400-14861600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:14850400-14861600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:14850600-14861200	Weak transcription	Liver	Liver
16	chr5:14850600-14863000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:14850800-14861200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:14850800-14869000	Weak transcription	Brain Germinal Matrix	brain
19	chr5:14851400-14861400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:14851400-14863000	Weak transcription	Brain Anterior Caudate	brain
21	chr5:14851400-14863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:14851600-14861800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:14851600-14869800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:14851800-14862800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:14852400-14861400	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:14852400-14861400	Weak transcription	Gastric	stomach
27	chr5:14853200-14869000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:14854800-14863000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:14855400-14861200	Weak transcription	Stomach Mucosa	stomach
30	chr5:14855400-14861400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:14855400-14862400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:14855400-14868800	Weak transcription	Hela-S3	cervix
33	chr5:14855400-14870000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:14855400-14870000	Weak transcription	Placenta	Placenta
35	chr5:14855600-14861200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:14855600-14863600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:14855600-14863800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:14856600-14869000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:14857200-14861200	Weak transcription	HepG2	liver
40	chr5:14857400-14862400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:14857400-14869000	Weak transcription	Primary T cells from cord blood	blood
42	chr5:14859600-14861800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:14859600-14864600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:14859800-14862000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr5:14859800-14863000	Enhancers	Fetal Intestine Large	intestine
46	chr5:14859800-14866200	Enhancers	Fetal Heart	heart
47	chr5:14860000-14863800	Enhancers	Right Ventricle	heart
48	chr5:14860200-14866000	Enhancers	Brain Substantia Nigra	brain
49	chr5:14860400-14861200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:14860400-14861200	Weak transcription	Left Ventricle	heart

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