Variant report

Variant	rs1077183
Chromosome Location	chr5:58319147-58319148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10066573	0.81[MEX][hapmap]
rs10472082	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10514870	0.87[MEX][hapmap]
rs11950495	0.81[AMR][1000 genomes]
rs12651964	0.81[AMR][1000 genomes]
rs12656462	0.81[CEU][hapmap];0.81[AMR][1000 genomes]
rs12657171	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13175380	0.80[AMR][1000 genomes]
rs1498603	0.87[EUR][1000 genomes]
rs35150172	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6864156	0.87[MEX][hapmap]
rs7706419	0.87[EUR][1000 genomes]
rs986067	0.81[MEX][hapmap]

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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58279600-58330400	Weak transcription	Fetal Stomach	stomach
2	chr5:58281800-58321600	Weak transcription	Osteobl	bone
3	chr5:58286200-58330400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:58286200-58330600	Weak transcription	Thymus	Thymus
5	chr5:58288800-58330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:58296000-58321600	Weak transcription	Aorta	Aorta
7	chr5:58302400-58321600	Weak transcription	Gastric	stomach
8	chr5:58307000-58322000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58310800-58323400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:58313000-58333400	Weak transcription	Lung	lung
11	chr5:58313200-58325600	Weak transcription	Fetal Lung	lung
12	chr5:58313200-58330200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:58314400-58323200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:58314600-58321600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:58314800-58323000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:58315000-58325800	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:58316600-58319200	Enhancers	Hela-S3	cervix
18	chr5:58317200-58322800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:58317200-58323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:58317200-58331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:58317400-58319800	Weak transcription	Fetal Kidney	kidney
22	chr5:58317400-58320600	Weak transcription	Fetal Intestine Large	intestine
23	chr5:58317400-58325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:58317600-58321600	Weak transcription	Right Atrium	heart
25	chr5:58317600-58321600	Weak transcription	HepG2	liver
26	chr5:58317800-58331800	Weak transcription	Fetal Intestine Small	intestine
27	chr5:58318000-58320000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:58318000-58320200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:58318000-58333000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:58318200-58320200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:58318200-58321600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:58318200-58321600	Weak transcription	Pancreas	Pancrea
33	chr5:58318400-58321400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:58318400-58321600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:58318400-58321800	Weak transcription	Fetal Heart	heart
36	chr5:58318400-58330600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:58318600-58319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:58318600-58320200	Genic enhancers	A549	lung
39	chr5:58318600-58321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:58318600-58321600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:58318600-58321600	Weak transcription	Esophagus	oesophagus
42	chr5:58318600-58321600	Weak transcription	Fetal Thymus	thymus
43	chr5:58318600-58321600	Weak transcription	Psoas Muscle	Psoas
44	chr5:58318600-58321600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:58318600-58321600	Weak transcription	HSMM	muscle
46	chr5:58318600-58321800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:58318600-58321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:58318600-58322000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:58318600-58322800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:58318600-58322800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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