Variant report

Variant	rs73592909
Chromosome Location	chr8:54951038-54951039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10101967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16919753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452332	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489512	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28698373	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28813536	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590828	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54935400-54962800	Weak transcription	HSMMtube	muscle
2	chr8:54935600-54954600	Weak transcription	HSMM	muscle
3	chr8:54935600-54955600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:54935600-54956600	Weak transcription	Pancreas	Pancrea
5	chr8:54935600-54956600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:54935600-54956600	Weak transcription	HUVEC	blood vessel
7	chr8:54935600-54963000	Weak transcription	Thymus	Thymus
8	chr8:54938400-54955400	Weak transcription	NHEK	skin
9	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:54942800-54956600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:54943800-54955600	Weak transcription	Lung	lung
12	chr8:54944000-54955600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:54944000-54966000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:54944200-54956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:54944200-54957000	Weak transcription	Fetal Intestine Large	intestine
17	chr8:54944200-54957000	Weak transcription	K562	blood
18	chr8:54944200-54974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:54945400-54955000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:54945800-54955400	Weak transcription	Placenta	Placenta
21	chr8:54945800-54955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:54945800-54960600	Weak transcription	HMEC	breast
23	chr8:54945800-54961000	Weak transcription	Fetal Lung	lung
24	chr8:54946000-54955600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:54946200-54956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:54946400-54951200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:54946400-54954600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:54946400-54955000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:54946400-54955000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:54946400-54955200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:54946400-54955200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:54946400-54955400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:54946400-54955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:54946400-54955400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:54946400-54956800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:54946400-54961600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
38	chr8:54946600-54955000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:54947000-54957200	Weak transcription	Primary T cells from cord blood	blood
40	chr8:54947200-54956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:54947200-54960800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:54947200-54964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:54947600-54956400	Weak transcription	Spleen	Spleen
44	chr8:54947800-54961600	Weak transcription	Esophagus	oesophagus
45	chr8:54948200-54955200	Weak transcription	A549	lung
46	chr8:54948400-54954600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:54948600-54955200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:54948800-54956400	Weak transcription	HepG2	liver
49	chr8:54949000-54977200	Weak transcription	Aorta	Aorta
50	chr8:54949800-54999400	Weak transcription	NHLF	lung

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