Variant report

Variant	rs13253450
Chromosome Location	chr8:121577688-121577689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10098051	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216544	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774895	0.88[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11782035	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11786460	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786755	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993763	0.88[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13248824	0.92[CEU][hapmap];0.83[CHB][hapmap]
rs13265960	0.88[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35721503	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4387016	0.80[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes]
rs4395927	0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4455882	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4515597	0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4562365	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4582605	0.88[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4644306	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984991	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6999061	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7460062	0.88[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7820041	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7827513	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7839488	0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs7846519	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
2	chr8:121556200-121586400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:121557800-121597400	Weak transcription	Osteobl	bone
4	chr8:121560400-121586800	Weak transcription	Fetal Stomach	stomach
5	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr8:121561200-121582600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:121561200-121585200	Weak transcription	Fetal Kidney	kidney
9	chr8:121561200-121586000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:121561200-121586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:121561200-121586800	Weak transcription	Gastric	stomach
12	chr8:121561200-121586800	Weak transcription	Lung	lung
13	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
14	chr8:121561400-121581600	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:121561400-121582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:121561400-121583000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:121561400-121585400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:121561400-121586000	Weak transcription	NHLF	lung
19	chr8:121561400-121586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:121561800-121583000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:121561800-121585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:121562200-121582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:121568400-121586400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:121568600-121582600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:121568600-121582600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:121568600-121585400	Weak transcription	Primary B cells from cord blood	blood
27	chr8:121568600-121586200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:121568600-121586800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:121569800-121582400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:121569800-121586200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:121570000-121579000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:121570000-121580400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:121570200-121582800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:121570200-121582800	Weak transcription	Liver	Liver
35	chr8:121570200-121584400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:121570200-121585200	Weak transcription	Primary T cells from cord blood	blood
37	chr8:121572400-121592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:121575200-121580800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:121575200-121592800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:121575400-121585800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:121575600-121597000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:121575800-121581400	Weak transcription	HepG2	liver
43	chr8:121575800-121582000	Weak transcription	HSMMtube	muscle
44	chr8:121575800-121582200	Weak transcription	Psoas Muscle	Psoas
45	chr8:121575800-121587400	Weak transcription	NHDF-Ad	bronchial
46	chr8:121576000-121582800	Weak transcription	HSMM	muscle
47	chr8:121577400-121578200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:121577600-121589000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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