Variant report

Variant	rs2645388
Chromosome Location	chr8:20111812-20111813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11204106	0.94[ASN][1000 genomes]
rs11784323	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645384	0.85[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2645385	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2645386	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645387	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645392	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2935312	0.96[CEU][hapmap];0.81[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3735839	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6586900	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6989618	0.82[EUR][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20096800-20119400	Weak transcription	Right Atrium	heart
2	chr8:20097400-20112400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:20097600-20112000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:20102400-20118800	Weak transcription	NH-A	brain
5	chr8:20103000-20113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:20103000-20119400	Strong transcription	Dnd41	blood
7	chr8:20103200-20112600	Strong transcription	Brain Germinal Matrix	brain
8	chr8:20103200-20112800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:20103400-20113000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:20103600-20113000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:20104200-20118800	Weak transcription	Fetal Intestine Large	intestine
12	chr8:20105400-20114800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:20106000-20114200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:20106200-20119800	Weak transcription	Osteobl	bone
15	chr8:20106400-20113000	Strong transcription	Fetal Brain Female	brain
16	chr8:20107200-20112800	Strong transcription	HSMMtube	muscle
17	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
18	chr8:20108600-20113000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:20108800-20112600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:20108800-20112800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:20109400-20112800	Strong transcription	NHLF	lung
22	chr8:20109800-20112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:20109800-20112800	Enhancers	Placenta	Placenta
24	chr8:20109800-20113000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr8:20110000-20112600	Weak transcription	Spleen	Spleen
26	chr8:20110200-20118400	Weak transcription	Fetal Lung	lung
27	chr8:20110200-20119000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:20110400-20112000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:20110400-20112600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:20110400-20113400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:20110400-20113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:20110400-20114800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:20110600-20113000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:20110600-20116200	Weak transcription	HSMM	muscle
35	chr8:20110800-20113200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr8:20110800-20119400	Weak transcription	Thymus	Thymus
37	chr8:20110800-20120000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:20111000-20113000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:20111000-20113000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:20111200-20112000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:20111200-20112400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:20111200-20112600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:20111200-20112800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:20111200-20118000	Weak transcription	Esophagus	oesophagus
45	chr8:20111400-20112000	Genic enhancers	Primary T cells from cord blood	blood
46	chr8:20111400-20112200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr8:20111400-20112200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:20111400-20112400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr8:20111400-20112600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:20111400-20112600	Enhancers	Primary T helper cells fromperipheralblood	blood

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