Variant report

Variant	rs73530592
Chromosome Location	chr8:11037420-11037421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11986533	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409723	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409728	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382431	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57474767	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57520531	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59028984	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73530582	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73532812	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv519941	chr8:11016889-11039816	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11026800-11043600	Weak transcription	Pancreas	Pancrea
2	chr8:11026800-11043800	Weak transcription	Spleen	Spleen
3	chr8:11028000-11048200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:11028200-11050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:11028200-11052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:11028200-11056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:11028800-11054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:11029200-11039400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:11029200-11039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:11029600-11056800	Weak transcription	Fetal Intestine Small	intestine
11	chr8:11031400-11054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:11032000-11053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:11032400-11042800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:11033400-11039600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:11034600-11054400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:11034600-11057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11034600-11057000	Weak transcription	Esophagus	oesophagus
18	chr8:11035200-11038400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:11035400-11054600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:11035600-11037800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:11035600-11040000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:11035600-11040000	Weak transcription	GM12878-XiMat	blood
23	chr8:11035600-11042200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:11035600-11042200	Weak transcription	Gastric	stomach
25	chr8:11035600-11044600	Weak transcription	NHEK	skin
26	chr8:11035600-11054000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:11035800-11038000	Weak transcription	HSMMtube	muscle
28	chr8:11035800-11039600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:11035800-11044600	Weak transcription	NH-A	brain
30	chr8:11035800-11044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:11035800-11051600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:11035800-11056000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:11036000-11037800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:11036000-11037800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:11036000-11045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:11036400-11040000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:11037400-11037600	Enhancers	HSMM	muscle
38	chr8:11037400-11038400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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