Variant report

Variant	rs2968002
Chromosome Location	chr5:58322386-58322387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2968005	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2968016	0.89[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	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	chr5:58310800-58323400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:58313000-58333400	Weak transcription	Lung	lung
7	chr5:58313200-58325600	Weak transcription	Fetal Lung	lung
8	chr5:58313200-58330200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:58314400-58323200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:58314800-58323000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:58315000-58325800	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:58317200-58322800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:58317200-58323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:58317200-58331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:58317400-58325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:58317800-58331800	Weak transcription	Fetal Intestine Small	intestine
17	chr5:58318000-58333000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:58318400-58330600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:58318600-58322800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:58318600-58322800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:58318600-58323800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:58318600-58330400	Weak transcription	Right Ventricle	heart
23	chr5:58318600-58330600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:58318600-58333000	Weak transcription	Left Ventricle	heart
25	chr5:58318600-58333200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:58319200-58324200	Weak transcription	Hela-S3	cervix
27	chr5:58320000-58326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:58320200-58334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:58320400-58324400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:58321200-58322400	Transcr. at gene 5' and 3'	A549	lung
31	chr5:58321200-58323000	Enhancers	Primary T cells from cord blood	blood
32	chr5:58321400-58322400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:58321400-58323000	Enhancers	Rectal Smooth Muscle	rectum
34	chr5:58321600-58322400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:58321600-58322400	Enhancers	Right Atrium	heart
36	chr5:58321600-58322400	Enhancers	Stomach Smooth Muscle	stomach
37	chr5:58321600-58322400	Enhancers	HepG2	liver
38	chr5:58321600-58323200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr5:58321600-58323400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:58321600-58323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:58321600-58324000	Strong transcription	HSMM	muscle
42	chr5:58321600-58324600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:58321600-58326800	Strong transcription	Fetal Thymus	thymus
44	chr5:58321800-58322400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:58321800-58325600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:58321800-58330200	Weak transcription	Osteobl	bone
47	chr5:58321800-58334000	Weak transcription	Gastric	stomach
48	chr5:58322000-58322400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:58322000-58322400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:58322000-58322600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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