Variant report

Variant	rs73694304
Chromosome Location	chr8:91034357-91034358
allele	C/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:10)

rs_ID	r²[population]
rs16902428	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805860	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805884	0.85[AFR][1000 genomes]
rs2158423	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57317967	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7000324	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7005991	0.85[AFR][1000 genomes]
rs7006767	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73308404	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7829659	0.84[EUR][1000 genomes];0.88[ASN][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
3	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
4	chr8:91018400-91034400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:91018600-91065400	Weak transcription	HMEC	breast
6	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
7	chr8:91019800-91048600	Weak transcription	K562	blood
8	chr8:91021600-91034400	Weak transcription	Aorta	Aorta
9	chr8:91022800-91034400	Weak transcription	Gastric	stomach
10	chr8:91022800-91042000	Weak transcription	Pancreas	Pancrea
11	chr8:91027600-91035400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:91027600-91066800	Weak transcription	NHEK	skin
13	chr8:91027800-91034800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:91027800-91036200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:91028400-91035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:91029000-91036200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:91029400-91035600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:91029400-91036000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
20	chr8:91030000-91049600	Weak transcription	Small Intestine	intestine
21	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:91031000-91035400	Strong transcription	Fetal Thymus	thymus
23	chr8:91031000-91035800	Strong transcription	Adipose Nuclei	Adipose
24	chr8:91031000-91035800	Strong transcription	HSMM	muscle
25	chr8:91031000-91036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:91031200-91034800	Strong transcription	Placenta	Placenta
27	chr8:91031200-91034800	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:91031200-91034800	Strong transcription	HSMMtube	muscle
29	chr8:91031200-91035000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:91031200-91035400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:91031200-91035400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr8:91031200-91035400	Strong transcription	Left Ventricle	heart
33	chr8:91031200-91035600	Strong transcription	Primary T cells from cord blood	blood
34	chr8:91031200-91035600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:91031200-91035600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr8:91031200-91035600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:91031200-91035800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:91031200-91035800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:91031200-91035800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:91031200-91035800	Strong transcription	Primary B cells from cord blood	blood
41	chr8:91031200-91035800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:91031200-91035800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:91031200-91035800	Strong transcription	Fetal Lung	lung
44	chr8:91031200-91035800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:91031200-91035800	Strong transcription	Osteobl	bone
46	chr8:91031200-91036000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:91031200-91036000	Strong transcription	Dnd41	blood
48	chr8:91031200-91036200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:91031200-91036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:91031200-91036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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