Variant report

Variant	rs4395927
Chromosome Location	chr8:121568921-121568922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121548668..121550591-chr8:121568296..121570186,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10098051	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10216544	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782950	0.82[CHD][hapmap]
rs11786460	0.87[CHB][hapmap];0.92[JPT][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11786755	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11993763	0.83[CHD][hapmap];0.86[GIH][hapmap];0.87[MEX][hapmap]
rs13253450	0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13265960	0.83[CHD][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap]
rs4455882	1.00[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4582605	0.83[CHD][hapmap];0.87[MEX][hapmap]
rs4644306	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.80[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469937	0.83[CHD][hapmap];0.87[MEX][hapmap]
rs6984991	0.81[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap]
rs6999061	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7460062	0.88[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs7820041	0.86[ASN][1000 genomes]
rs7839488	0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];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

Variant related diseases (count:1)

Disease	PMID	Source
Myopia (pathological)	23406873	GWAS catalog

Chromatin state (count:51 , 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	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:121561200-121569400	Weak transcription	Adipose Nuclei	Adipose
14	chr8:121561200-121574400	Weak transcription	HSMM	muscle
15	chr8:121561200-121582600	Weak transcription	Fetal Intestine Large	intestine
16	chr8:121561200-121585200	Weak transcription	Fetal Kidney	kidney
17	chr8:121561200-121586000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:121561200-121586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:121561200-121586800	Weak transcription	Gastric	stomach
20	chr8:121561200-121586800	Weak transcription	Lung	lung
21	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
22	chr8:121561400-121569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:121561400-121572000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:121561400-121581600	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:121561400-121582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:121561400-121583000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:121561400-121585400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:121561400-121586000	Weak transcription	NHLF	lung
29	chr8:121561400-121586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:121561800-121583000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:121561800-121585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:121562200-121582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:121564400-121570000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:121565000-121571600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:121565200-121570800	Strong transcription	HepG2	liver
36	chr8:121565800-121569000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:121565800-121570600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:121566000-121570200	Strong transcription	Primary T cells from cord blood	blood
39	chr8:121567000-121569800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:121567000-121570200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr8:121567400-121569600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:121567600-121569200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:121568000-121570000	Strong transcription	HSMMtube	muscle
44	chr8:121568400-121569400	Weak transcription	Right Atrium	heart
45	chr8:121568400-121586400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:121568600-121582600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:121568600-121582600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:121568600-121585400	Weak transcription	Primary B cells from cord blood	blood
49	chr8:121568600-121586200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:121568600-121586800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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