Variant report

Variant	rs28437156
Chromosome Location	chr8:54977350-54977351
allele	C/G
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]
rs10101967	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11549448	0.85[AFR][1000 genomes]
rs16919753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489512	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620338	1.00[AMR][1000 genomes]
rs28698373	1.00[AMR][1000 genomes]
rs28723633	0.86[AFR][1000 genomes]
rs28813536	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	1.00[AMR][1000 genomes]
rs73589289	1.00[AMR][1000 genomes]
rs73590828	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590837	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592909	0.86[AFR][1000 genomes];1.00[AMR][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:117 , 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	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
4	chr8:54949800-54999400	Weak transcription	NHLF	lung
5	chr8:54955200-54979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:54955400-54978400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:54956600-54977800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
12	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:54960000-54978600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
15	chr8:54960600-54977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:54960600-54977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:54960800-54977400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:54960800-54977600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:54960800-54978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
21	chr8:54963200-54983600	Weak transcription	Brain Angular Gyrus	brain
22	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
25	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
26	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
27	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:54964600-54978000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
30	chr8:54966400-54979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:54966400-54991800	Weak transcription	NH-A	brain
32	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
33	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
34	chr8:54966600-54979200	Weak transcription	Fetal Brain Male	brain
35	chr8:54966600-54983000	Weak transcription	Brain Germinal Matrix	brain
36	chr8:54966600-54991800	Weak transcription	Osteobl	bone
37	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:54967200-54983200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:54967200-54983400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:54967200-54991600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:54967200-54999200	Weak transcription	Ovary	ovary
42	chr8:54967600-54981000	Weak transcription	HSMM	muscle
43	chr8:54968800-54977800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:54970000-54977800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:54970200-54977800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:54970200-54980000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:54970200-54981600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:54970400-54983400	Weak transcription	Fetal Lung	lung
49	chr8:54970400-54983600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:54971400-54978400	Strong transcription	Primary T cells fromperipheralblood	blood

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