Variant report

Variant	rs58049400
Chromosome Location	chr8:121739160-121739161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56663462	1.00[AMR][1000 genomes]
rs60204620	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61087167	1.00[AMR][1000 genomes]
rs6999333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7018224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321229	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321244	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321266	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321269	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321287	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323114	1.00[AMR][1000 genomes]
rs7836785	0.88[AFR][1000 genomes];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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121729000-121739200	Weak transcription	Fetal Stomach	stomach
2	chr8:121730000-121747400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:121730400-121746600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:121730400-121747400	Weak transcription	Colonic Mucosa	Colon
5	chr8:121730600-121745400	Weak transcription	Pancreas	Pancrea
6	chr8:121730600-121747000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:121731000-121757400	Weak transcription	Lung	lung
8	chr8:121732200-121741600	Weak transcription	Primary B cells from cord blood	blood
9	chr8:121735800-121739800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:121735800-121740400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:121736000-121739600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:121736000-121739800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:121736000-121739800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:121736000-121740000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:121736000-121740200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:121736200-121740000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:121737200-121741400	Weak transcription	HSMM	muscle
18	chr8:121737200-121746800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:121737400-121740000	Enhancers	Primary T cells from cord blood	blood
20	chr8:121737400-121747800	Weak transcription	Gastric	stomach
21	chr8:121737600-121741200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:121737600-121743000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:121737600-121743000	Weak transcription	Thymus	Thymus
24	chr8:121737600-121743200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:121737600-121743600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:121737600-121743800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:121737600-121747600	Weak transcription	Small Intestine	intestine
28	chr8:121737800-121741400	Weak transcription	Fetal Thymus	thymus
29	chr8:121737800-121742400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:121738000-121741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:121738000-121742600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:121738200-121739200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:121738200-121739200	Enhancers	Adipose Nuclei	Adipose
34	chr8:121738200-121739600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:121738200-121740200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:121738200-121742000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:121738400-121739200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:121738400-121739200	Enhancers	HSMMtube	muscle
39	chr8:121738600-121740000	Enhancers	Liver	Liver
40	chr8:121738800-121739600	Enhancers	Brain Anterior Caudate	brain
41	chr8:121738800-121739600	Enhancers	Colon Smooth Muscle	Colon
42	chr8:121738800-121739600	Enhancers	Fetal Lung	lung
43	chr8:121738800-121739600	Enhancers	NHLF	lung
44	chr8:121738800-121740200	Genic enhancers	HepG2	liver
45	chr8:121739000-121739200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:121739000-121739200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:121739000-121739400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:121739000-121739400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr8:121739000-121739600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:121739000-121739600	Enhancers	Rectal Mucosa Donor 31	rectum

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