Variant report

Variant	rs11992220
Chromosome Location	chr8:54968904-54968905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11986617	1.00[EUR][1000 genomes]
rs11990809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995582	1.00[EUR][1000 genomes]
rs35010658	1.00[EUR][1000 genomes]
rs58221990	1.00[EUR][1000 genomes]
rs59549579	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60834806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473912	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990968	1.00[EUR][1000 genomes]
rs7001356	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018154	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587669	1.00[EUR][1000 genomes]
rs73680388	1.00[EUR][1000 genomes]
rs7463527	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7463528	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818005	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821654	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv1818072	chr8:54968014-54991447	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:54944200-54974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
5	chr8:54949000-54977200	Weak transcription	Aorta	Aorta
6	chr8:54949800-54999400	Weak transcription	NHLF	lung
7	chr8:54954000-54973800	Weak transcription	Right Ventricle	heart
8	chr8:54955200-54979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:54955400-54970400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:54955400-54978400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:54956400-54974200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:54956600-54977800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:54957200-54973800	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
18	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:54960000-54978600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
21	chr8:54960400-54970400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:54960600-54970400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:54960600-54977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:54960600-54977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:54960800-54970600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:54960800-54977400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:54960800-54977600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:54960800-54978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:54961200-54970000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:54961200-54970400	Strong transcription	Adipose Nuclei	Adipose
31	chr8:54962000-54970600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:54962200-54971600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
34	chr8:54963200-54983600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
38	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
39	chr8:54963400-54969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
41	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:54964600-54978000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:54965200-54970400	Strong transcription	A549	lung
44	chr8:54965400-54972400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:54965400-54972800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:54966200-54969200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
48	chr8:54966400-54969200	Weak transcription	Left Ventricle	heart
49	chr8:54966400-54971200	Weak transcription	NHEK	skin
50	chr8:54966400-54972600	Weak transcription	Thymus	Thymus

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