Variant report

Variant	rs16930163
Chromosome Location	chr8:48598738-48598739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10441581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12674784	0.92[CEU][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13279327	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs13280068	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1542721	0.87[JPT][hapmap]
rs16930230	0.87[JPT][hapmap]
rs2029239	0.86[ASN][1000 genomes]
rs2130411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4594029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4873463	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4873478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4873546	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6986054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7462209	1.00[ASN][1000 genomes]
rs7827571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7830859	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7842068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
3	chr8:48582200-48604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
7	chr8:48589600-48604200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:48590400-48610000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:48590600-48625200	Weak transcription	HepG2	liver
10	chr8:48590800-48607600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:48591400-48606000	Weak transcription	Right Ventricle	heart
12	chr8:48591800-48606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:48593000-48601200	Weak transcription	Lung	lung
14	chr8:48593000-48605600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
16	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
18	chr8:48593600-48599000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:48593600-48600200	Weak transcription	Placenta	Placenta
20	chr8:48593600-48606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:48593600-48606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:48593800-48600200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:48593800-48609200	Weak transcription	Esophagus	oesophagus
26	chr8:48594000-48599600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:48595600-48601400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:48596000-48599600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:48596000-48603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:48596000-48604000	Weak transcription	Small Intestine	intestine
31	chr8:48596000-48604200	Weak transcription	Left Ventricle	heart
32	chr8:48596000-48604800	Weak transcription	Brain Substantia Nigra	brain
33	chr8:48596000-48605400	Weak transcription	Gastric	stomach
34	chr8:48596000-48607800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:48596200-48599600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:48596200-48599600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:48596200-48604000	Weak transcription	Brain Anterior Caudate	brain
38	chr8:48596400-48599600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:48597000-48610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:48597000-48610400	Weak transcription	Ovary	ovary
41	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:48597200-48614200	Weak transcription	Hela-S3	cervix
43	chr8:48597200-48647200	Weak transcription	NHEK	skin
44	chr8:48597200-48647400	Weak transcription	HMEC	breast
45	chr8:48597400-48610200	Weak transcription	HSMM	muscle
46	chr8:48597400-48614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:48597800-48612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:48598600-48598800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:48598600-48598800	Enhancers	HSMMtube	muscle
50	chr8:48598600-48598800	Enhancers	NHDF-Ad	bronchial

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