Variant report

Variant	rs3793380
Chromosome Location	chr8:69046622-69046623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12056532	0.83[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12682429	0.84[YRI][hapmap]
rs13251311	0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs16934224	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17376234	0.93[ASN][1000 genomes]
rs2890422	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2890423	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4454258	0.87[AMR][1000 genomes]
rs4582543	0.84[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7831861	0.85[YRI][hapmap];0.89[AMR][1000 genomes]
rs7843248	0.89[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	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68995000-69047600	Weak transcription	Brain Anterior Caudate	brain
2	chr8:68996800-69053600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:69006400-69048400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:69007400-69066200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:69016800-69062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
7	chr8:69021000-69067600	Weak transcription	Right Ventricle	heart
8	chr8:69033200-69066800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:69035200-69064600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:69036800-69056600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:69037400-69064800	Weak transcription	Left Ventricle	heart
12	chr8:69039000-69054200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:69040600-69053400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:69041000-69068400	Weak transcription	Lung	lung
15	chr8:69041200-69053800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:69043400-69051600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:69045400-69066800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:69045600-69066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:69045800-69049000	Strong transcription	HUVEC	blood vessel
21	chr8:69045800-69049200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:69045800-69055000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:69046000-69047400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:69046200-69046800	Strong transcription	Adipose Nuclei	Adipose
25	chr8:69046200-69047000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:69046200-69047000	Enhancers	Pancreas	Pancrea
27	chr8:69046200-69047400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:69046400-69047400	Enhancers	Fetal Brain Female	brain
29	chr8:69046400-69047800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:69046400-69048400	Enhancers	Fetal Brain Male	brain
31	chr8:69046400-69051400	Weak transcription	Aorta	Aorta
32	chr8:69046600-69046800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:69046600-69047400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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