Variant report

Variant	rs73669754
Chromosome Location	chr8:20112020-20112021
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28368992	1.00[EUR][1000 genomes]
rs28475243	1.00[EUR][1000 genomes]
rs28485611	1.00[EUR][1000 genomes]
rs28552383	1.00[EUR][1000 genomes]
rs28621370	1.00[EUR][1000 genomes]
rs2898498	1.00[EUR][1000 genomes]
rs34062067	1.00[EUR][1000 genomes]
rs57127754	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57435297	1.00[EUR][1000 genomes]
rs58835058	1.00[EUR][1000 genomes]
rs60237642	1.00[EUR][1000 genomes]
rs6986012	1.00[EUR][1000 genomes]
rs7009375	1.00[EUR][1000 genomes]
rs73669730	1.00[EUR][1000 genomes]
rs73669753	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73669756	1.00[EUR][1000 genomes]
rs7834224	1.00[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:69 , 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	chr8:20102400-20118800	Weak transcription	NH-A	brain
4	chr8:20103000-20113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:20103000-20119400	Strong transcription	Dnd41	blood
6	chr8:20103200-20112600	Strong transcription	Brain Germinal Matrix	brain
7	chr8:20103200-20112800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:20103400-20113000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:20103600-20113000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:20104200-20118800	Weak transcription	Fetal Intestine Large	intestine
11	chr8:20105400-20114800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:20106000-20114200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:20106200-20119800	Weak transcription	Osteobl	bone
14	chr8:20106400-20113000	Strong transcription	Fetal Brain Female	brain
15	chr8:20107200-20112800	Strong transcription	HSMMtube	muscle
16	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:20108600-20113000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:20108800-20112600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:20108800-20112800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:20109400-20112800	Strong transcription	NHLF	lung
21	chr8:20109800-20112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:20109800-20112800	Enhancers	Placenta	Placenta
23	chr8:20109800-20113000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr8:20110000-20112600	Weak transcription	Spleen	Spleen
25	chr8:20110200-20118400	Weak transcription	Fetal Lung	lung
26	chr8:20110200-20119000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:20110400-20112600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:20110400-20113400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:20110400-20113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:20110400-20114800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:20110600-20113000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:20110600-20116200	Weak transcription	HSMM	muscle
33	chr8:20110800-20113200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr8:20110800-20119400	Weak transcription	Thymus	Thymus
35	chr8:20110800-20120000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:20111000-20113000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:20111000-20113000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:20111200-20112400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr8:20111200-20112600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:20111200-20112800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:20111200-20118000	Weak transcription	Esophagus	oesophagus
42	chr8:20111400-20112200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr8:20111400-20112200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:20111400-20112400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:20111400-20112600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:20111400-20112600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:20111400-20113200	Genic enhancers	Fetal Muscle Leg	muscle
48	chr8:20111400-20122000	Weak transcription	Gastric	stomach
49	chr8:20111600-20112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:20111600-20113200	Enhancers	Brain Anterior Caudate	brain

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