Variant report

Variant	rs6999061
Chromosome Location	chr8:121567440-121567441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10098051	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10216544	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774895	0.85[EUR][1000 genomes]
rs11782035	0.86[EUR][1000 genomes]
rs11786460	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11786755	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11993763	0.85[EUR][1000 genomes]
rs13253450	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13265960	0.85[EUR][1000 genomes]
rs35721503	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4395927	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455882	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4515597	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4562365	0.85[EUR][1000 genomes]
rs4582605	0.85[EUR][1000 genomes]
rs4644306	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984991	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7460062	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7820041	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7827513	0.84[EUR][1000 genomes]
rs7839488	0.81[AMR][1000 genomes];0.90[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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
2	chr8:121536400-121574600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:121548000-121570200	Strong transcription	Liver	Liver
4	chr8:121553200-121574200	Weak transcription	Psoas Muscle	Psoas
5	chr8:121553200-121574800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:121556200-121586400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:121557800-121597400	Weak transcription	Osteobl	bone
8	chr8:121558000-121569600	Weak transcription	Left Ventricle	heart
9	chr8:121558200-121574400	Weak transcription	NHDF-Ad	bronchial
10	chr8:121560400-121586800	Weak transcription	Fetal Stomach	stomach
11	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:121560800-121568800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:121561200-121569400	Weak transcription	Adipose Nuclei	Adipose
15	chr8:121561200-121574400	Weak transcription	HSMM	muscle
16	chr8:121561200-121582600	Weak transcription	Fetal Intestine Large	intestine
17	chr8:121561200-121585200	Weak transcription	Fetal Kidney	kidney
18	chr8:121561200-121586000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:121561200-121586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:121561200-121586800	Weak transcription	Gastric	stomach
21	chr8:121561200-121586800	Weak transcription	Lung	lung
22	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
23	chr8:121561400-121568000	Weak transcription	HSMMtube	muscle
24	chr8:121561400-121569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:121561400-121572000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:121561400-121581600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:121561400-121582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:121561400-121583000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:121561400-121585400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:121561400-121586000	Weak transcription	NHLF	lung
31	chr8:121561400-121586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:121561800-121567600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:121561800-121568000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:121561800-121568200	Weak transcription	Primary B cells from cord blood	blood
35	chr8:121561800-121568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:121561800-121583000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:121561800-121585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:121562200-121582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:121564400-121570000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:121565000-121571600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr8:121565200-121568600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:121565200-121570800	Strong transcription	HepG2	liver
43	chr8:121565800-121569000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:121565800-121570600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:121566000-121570200	Strong transcription	Primary T cells from cord blood	blood
46	chr8:121566400-121567600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:121567000-121568400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:121567000-121569800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:121567000-121570200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr8:121567400-121567600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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