Variant report

Variant	rs2409614
Chromosome Location	chr5:58325067-58325068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2936190	0.84[EUR][1000 genomes]
rs2936199	0.81[EUR][1000 genomes]
rs2968006	0.84[EUR][1000 genomes]
rs2968013	0.81[EUR][1000 genomes]
rs2968014	0.82[EUR][1000 genomes]
rs2968015	0.82[EUR][1000 genomes]
rs4321723	0.81[EUR][1000 genomes]
rs6875727	0.82[EUR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58279600-58330400	Weak transcription	Fetal Stomach	stomach
2	chr5:58286200-58330400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:58286200-58330600	Weak transcription	Thymus	Thymus
4	chr5:58288800-58330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:58313000-58333400	Weak transcription	Lung	lung
6	chr5:58313200-58325600	Weak transcription	Fetal Lung	lung
7	chr5:58313200-58330200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:58315000-58325800	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:58317200-58331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:58317400-58325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:58317800-58331800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:58318000-58333000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:58318400-58330600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:58318600-58330400	Weak transcription	Right Ventricle	heart
15	chr5:58318600-58330600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:58318600-58333000	Weak transcription	Left Ventricle	heart
17	chr5:58318600-58333200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:58320000-58326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:58320200-58334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:58321600-58326800	Strong transcription	Fetal Thymus	thymus
21	chr5:58321800-58325600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:58321800-58330200	Weak transcription	Osteobl	bone
23	chr5:58321800-58334000	Weak transcription	Gastric	stomach
24	chr5:58322000-58330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:58322000-58331800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:58322200-58330400	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:58322200-58330600	Weak transcription	HSMMtube	muscle
28	chr5:58322400-58325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:58322400-58330000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:58322400-58330600	Weak transcription	Right Atrium	heart
31	chr5:58322400-58330800	Weak transcription	HepG2	liver
32	chr5:58323000-58329200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:58323200-58325800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:58323200-58326600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:58323200-58330600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:58323400-58326200	ZNF genes & repeats	A549	lung
37	chr5:58323400-58326400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:58323400-58326400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:58323600-58327000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:58323600-58330400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:58323800-58328600	Weak transcription	Psoas Muscle	Psoas
42	chr5:58324000-58326000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr5:58324000-58329200	Weak transcription	HSMM	muscle
44	chr5:58324200-58325200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:58324200-58327000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:58324200-58330400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:58324400-58327000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:58324600-58325800	Weak transcription	Primary T cells from cord blood	blood
49	chr5:58324600-58326200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:58324600-58327000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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