Variant report

Variant	rs1046643
Chromosome Location	chr8:57875570-57875571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1046636	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12676924	0.95[EUR][1000 genomes]
rs12679713	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13256360	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13257046	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13265996	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13272145	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13278306	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13278878	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34162009	0.95[EUR][1000 genomes]
rs35400916	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3739364	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738557	0.95[EUR][1000 genomes]
rs56922495	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62511997	0.86[EUR][1000 genomes]
rs62511999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71519474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs925150	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57863800-57878200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:57866400-57876200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:57866400-57878600	Weak transcription	Ovary	ovary
4	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
5	chr8:57866600-57876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:57866600-57876400	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:57866800-57876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:57866800-57876200	Weak transcription	Left Ventricle	heart
9	chr8:57866800-57880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:57866800-57890000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:57867000-57876200	Weak transcription	Brain Germinal Matrix	brain
12	chr8:57867000-57876200	Weak transcription	Thymus	Thymus
13	chr8:57867600-57875600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:57867600-57881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:57868400-57876200	Weak transcription	Psoas Muscle	Psoas
16	chr8:57868400-57878600	Weak transcription	Aorta	Aorta
17	chr8:57868600-57876200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:57868600-57878400	Weak transcription	Fetal Brain Female	brain
19	chr8:57868800-57876200	Weak transcription	Fetal Intestine Small	intestine
20	chr8:57868800-57876200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:57868800-57878400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
23	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
24	chr8:57869400-57881800	Weak transcription	Stomach Mucosa	stomach
25	chr8:57869800-57876200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:57870000-57876000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:57870400-57880600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:57870600-57876200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:57870600-57876200	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:57870800-57876200	Weak transcription	K562	blood
31	chr8:57870800-57878200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:57870800-57880200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:57870800-57892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:57871200-57876200	Weak transcription	NHLF	lung
35	chr8:57871200-57888400	Weak transcription	HSMMtube	muscle
36	chr8:57871400-57876000	Weak transcription	Fetal Brain Male	brain
37	chr8:57871400-57876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:57871400-57876200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:57871400-57878400	Weak transcription	Gastric	stomach
40	chr8:57871600-57876200	Weak transcription	Lung	lung
41	chr8:57872000-57875800	Weak transcription	HMEC	breast
42	chr8:57872000-57876000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:57872000-57876200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:57872000-57876400	Weak transcription	NHEK	skin
45	chr8:57872400-57878600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:57872400-57883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:57872600-57875800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:57872600-57878200	Weak transcription	Colonic Mucosa	Colon
49	chr8:57872600-57880200	Strong transcription	Fetal Intestine Large	intestine
50	chr8:57872600-57880600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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