Variant report

Variant	rs13263732
Chromosome Location	chr8:121523800-121523801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10086229	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10090842	0.83[AMR][1000 genomes]
rs10093792	0.81[AMR][1000 genomes]
rs10095915	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10097612	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10099300	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10101562	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10110765	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10808512	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12155569	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12155618	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12546382	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12547937	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12548210	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12548498	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12550724	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12675768	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12679289	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12681110	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13248193	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13250736	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13258768	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13258848	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13261347	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13267496	0.80[AMR][1000 genomes]
rs13269305	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13269329	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13269481	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13270125	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35648205	0.80[AMR][1000 genomes]
rs3924784	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3924785	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4128974	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4128975	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4128976	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4132023	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4132316	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4256629	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4279642	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4285526	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4317615	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4409429	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4431630	0.80[AMR][1000 genomes]
rs4601362	0.80[ASN][1000 genomes]
rs61675238	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6469932	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6469933	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6469934	0.80[AMR][1000 genomes]
rs6982091	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6987371	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6991614	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7001860	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7003420	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7004954	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7007857	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7009002	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7009779	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7015843	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7016071	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7461458	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7464523	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7464526	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7465620	0.84[AMR][1000 genomes]
rs7814311	0.81[AMR][1000 genomes]
rs7842992	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7843061	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7843106	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
5	chr8:121488400-121539200	Weak transcription	HSMM	muscle
6	chr8:121491400-121541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:121497200-121534200	Weak transcription	Small Intestine	intestine
8	chr8:121498200-121552400	Weak transcription	Pancreas	Pancrea
9	chr8:121498600-121533200	Weak transcription	HMEC	breast
10	chr8:121498800-121530200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:121499400-121530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:121499400-121550600	Weak transcription	Fetal Kidney	kidney
13	chr8:121499800-121550600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:121500000-121530800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:121500000-121550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:121500400-121531600	Weak transcription	K562	blood
17	chr8:121501400-121540600	Weak transcription	GM12878-XiMat	blood
18	chr8:121502000-121542000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:121502200-121541600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:121502200-121546600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:121502400-121526800	Weak transcription	Primary T cells from cord blood	blood
22	chr8:121502400-121527800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:121502400-121530800	Weak transcription	Primary B cells from cord blood	blood
24	chr8:121502400-121541600	Weak transcription	Ovary	ovary
25	chr8:121502400-121542400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:121502400-121550600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:121502600-121530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:121502800-121528000	Weak transcription	Fetal Thymus	thymus
29	chr8:121502800-121528200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:121502800-121536400	Weak transcription	Hela-S3	cervix
31	chr8:121503200-121563000	Weak transcription	Esophagus	oesophagus
32	chr8:121503400-121542200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:121504200-121527200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:121504200-121548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:121504400-121527400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:121504400-121536800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:121504400-121541600	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:121504600-121527600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:121504600-121550400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:121504800-121526800	Weak transcription	Fetal Lung	lung
41	chr8:121507400-121537000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:121508600-121541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:121511000-121533400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:121515600-121528200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:121516000-121541400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:121516200-121528000	Weak transcription	NHDF-Ad	bronchial
47	chr8:121516400-121531000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:121518000-121539200	Weak transcription	Osteobl	bone
49	chr8:121518200-121526200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:121519800-121562200	Weak transcription	Thymus	Thymus

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