Variant report

Variant	rs59899647
Chromosome Location	chr8:91031962-91031963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13312836	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312862	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312863	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312874	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312891	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312931	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2308961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55663774	1.00[AMR][1000 genomes]
rs55683922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55978729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56190114	1.00[AMR][1000 genomes]
rs58089706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61365155	1.00[AMR][1000 genomes]
rs6987476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694306	1.00[AMR][1000 genomes]
rs73694307	1.00[AMR][1000 genomes]
rs73694313	1.00[AMR][1000 genomes]
rs73694316	1.00[AMR][1000 genomes]
rs73696843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823648	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823987	0.88[AFR][1000 genomes];1.00[AMR][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
6	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
7	chr8:91015800-91033200	Weak transcription	Stomach Mucosa	stomach
8	chr8:91018400-91034400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:91018600-91065400	Weak transcription	HMEC	breast
10	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
11	chr8:91019600-91034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:91019800-91048600	Weak transcription	K562	blood
13	chr8:91021600-91034400	Weak transcription	Aorta	Aorta
14	chr8:91022600-91033400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:91022800-91034200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:91022800-91034400	Weak transcription	Gastric	stomach
17	chr8:91022800-91042000	Weak transcription	Pancreas	Pancrea
18	chr8:91025400-91032600	Weak transcription	Psoas Muscle	Psoas
19	chr8:91027600-91034200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:91027600-91035400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:91027600-91066800	Weak transcription	NHEK	skin
22	chr8:91027800-91034200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:91027800-91034800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:91027800-91036200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:91028400-91035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:91029000-91036200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:91029400-91035600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:91029400-91036000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
30	chr8:91029800-91032400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:91030000-91049600	Weak transcription	Small Intestine	intestine
32	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:91030400-91033000	Weak transcription	A549	lung
34	chr8:91030600-91032000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:91031000-91032000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr8:91031000-91032400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:91031000-91035400	Strong transcription	Fetal Thymus	thymus
38	chr8:91031000-91035800	Strong transcription	Adipose Nuclei	Adipose
39	chr8:91031000-91035800	Strong transcription	HSMM	muscle
40	chr8:91031000-91036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:91031200-91032000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr8:91031200-91032000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:91031200-91032000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:91031200-91032000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:91031200-91032000	Strong transcription	Brain Anterior Caudate	brain
46	chr8:91031200-91032000	Strong transcription	Fetal Brain Male	brain
47	chr8:91031200-91032000	Strong transcription	NHDF-Ad	bronchial
48	chr8:91031200-91032200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:91031200-91032400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:91031200-91032400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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