Variant report

Variant	rs10111737
Chromosome Location	chr8:92038304-92038305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10106732	0.82[TSI][hapmap]
rs13265644	0.81[CEU][hapmap]
rs28542498	0.80[EUR][1000 genomes]
rs4549728	0.82[TSI][hapmap]
rs7016498	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs7016813	0.82[TSI][hapmap]
rs7341609	0.85[CEU][hapmap]

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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1851089	chr8:92006663-92038304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10111737	INTS8	cis	cerebellum	SCAN
rs10111737	INTS4	trans	cerebellum	SCAN
rs10111737	RUNX1T1	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92003800-92040200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
3	chr8:92023600-92045600	Weak transcription	Right Ventricle	heart
4	chr8:92026000-92038400	Weak transcription	Esophagus	oesophagus
5	chr8:92028200-92049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:92029400-92049400	Weak transcription	Fetal Brain Male	brain
7	chr8:92029600-92051000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:92030800-92039000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:92030800-92039000	Weak transcription	HMEC	breast
10	chr8:92030800-92039200	Weak transcription	HUVEC	blood vessel
11	chr8:92030800-92039400	Weak transcription	HSMMtube	muscle
12	chr8:92030800-92039400	Weak transcription	NHEK	skin
13	chr8:92030800-92040000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:92030800-92049400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:92030800-92052400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:92030800-92052400	Weak transcription	Lung	lung
17	chr8:92031000-92038400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:92031000-92039800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:92031000-92040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:92031000-92050800	Weak transcription	Fetal Brain Female	brain
21	chr8:92031200-92038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:92031200-92047200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:92031400-92039400	Weak transcription	K562	blood
24	chr8:92031400-92045600	Weak transcription	Ovary	ovary
25	chr8:92031400-92046400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:92032000-92046600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:92032200-92041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:92032200-92044600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:92032200-92045600	Weak transcription	Brain Angular Gyrus	brain
30	chr8:92032200-92045600	Weak transcription	Left Ventricle	heart
31	chr8:92032200-92051800	Weak transcription	Thymus	Thymus
32	chr8:92032200-92052200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:92032200-92052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:92032200-92052200	Weak transcription	Fetal Stomach	stomach
35	chr8:92032400-92038400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:92032400-92038600	Weak transcription	Placenta	Placenta
37	chr8:92032400-92039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:92032400-92043000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:92032400-92050800	Weak transcription	Fetal Lung	lung
40	chr8:92032400-92051800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:92032600-92039000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:92032600-92040400	Weak transcription	Fetal Thymus	thymus
43	chr8:92032600-92043000	Weak transcription	GM12878-XiMat	blood
44	chr8:92032600-92049000	Weak transcription	Dnd41	blood
45	chr8:92032800-92045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:92033000-92038400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:92033200-92048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:92033400-92043600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:92033400-92046600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:92033600-92039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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