Variant report

Variant	rs11992660
Chromosome Location	chr8:42839498-42839499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10453137	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10675533	0.82[EUR][1000 genomes]
rs11984488	0.86[EUR][1000 genomes]
rs11984550	0.86[EUR][1000 genomes]
rs11986255	0.86[EUR][1000 genomes]
rs11987452	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11988102	0.86[EUR][1000 genomes]
rs11988197	0.86[EUR][1000 genomes]
rs11988227	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11988823	0.86[EUR][1000 genomes]
rs11990369	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11991133	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11991458	0.86[EUR][1000 genomes]
rs11992397	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11992567	0.86[EUR][1000 genomes]
rs11992682	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11992987	0.86[AFR][1000 genomes]
rs11993667	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11994115	0.86[AFR][1000 genomes]
rs11994318	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11995172	0.86[AFR][1000 genomes]
rs11995473	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11995810	0.85[AFR][1000 genomes]
rs11996604	0.86[EUR][1000 genomes]
rs11997992	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2194902	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs28799623	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28840077	0.86[AFR][1000 genomes]
rs34489103	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs35506493	0.84[AFR][1000 genomes]
rs57363090	0.95[EUR][1000 genomes]
rs57797146	0.90[EUR][1000 genomes]
rs57986156	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs58081556	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs58641534	0.85[AFR][1000 genomes]
rs59164172	0.86[EUR][1000 genomes]
rs59177170	0.86[EUR][1000 genomes]
rs59213790	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs60133450	0.86[AFR][1000 genomes]
rs60443202	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs60555023	0.86[EUR][1000 genomes]
rs60782941	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61224035	0.88[AFR][1000 genomes]
rs61733908	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6651368	0.86[EUR][1000 genomes]
rs6651369	0.86[EUR][1000 genomes]
rs7004940	0.95[EUR][1000 genomes]
rs7010367	0.86[EUR][1000 genomes]
rs73627229	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73627242	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627249	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627250	0.90[AFR][1000 genomes]
rs73627252	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627261	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627273	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627274	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627276	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627278	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627280	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627282	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627288	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73627294	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73629103	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73629108	0.80[AFR][1000 genomes]
rs73629110	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73629152	0.86[EUR][1000 genomes]
rs73629156	0.86[EUR][1000 genomes]
rs73629161	0.86[EUR][1000 genomes]
rs73629163	0.86[EUR][1000 genomes]
rs73629177	0.86[EUR][1000 genomes]
rs73629179	0.86[EUR][1000 genomes]
rs73629182	0.86[EUR][1000 genomes]
rs73629190	0.86[EUR][1000 genomes]
rs73629192	0.86[EUR][1000 genomes]
rs73629194	0.81[EUR][1000 genomes]
rs73634652	0.84[AFR][1000 genomes]
rs73634670	0.88[AFR][1000 genomes]
rs73634673	0.88[AFR][1000 genomes]
rs73634677	0.86[AFR][1000 genomes]
rs73634682	0.88[AFR][1000 genomes]
rs73634696	0.90[AFR][1000 genomes]
rs73635313	0.92[AFR][1000 genomes]
rs73635316	0.92[AFR][1000 genomes]
rs73635325	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635331	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635345	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635352	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635357	0.88[AFR][1000 genomes]
rs73635362	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635364	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635365	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635366	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635368	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73635370	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7838845	0.86[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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:42809800-42842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:42810600-42845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:42813200-42845800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:42813200-42846000	Weak transcription	Stomach Mucosa	stomach
7	chr8:42813800-42842000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:42813800-42846600	Strong transcription	Placenta	Placenta
9	chr8:42814200-42840400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr8:42814400-42845800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:42814400-42846600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:42815200-42845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:42816200-42846000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:42819200-42848600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:42819600-42844400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:42819800-42846800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:42821800-42848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:42822600-42846600	Weak transcription	Psoas Muscle	Psoas
19	chr8:42823400-42844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
22	chr8:42826000-42845600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:42827000-42844400	Strong transcription	Primary T cells from cord blood	blood
24	chr8:42827000-42845600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:42827200-42840000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:42827200-42845200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:42827200-42848000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:42827600-42846600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:42827600-42848200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:42828000-42842400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:42829000-42841400	Strong transcription	Fetal Stomach	stomach
32	chr8:42830600-42840800	Weak transcription	NHEK	skin
33	chr8:42830800-42842800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:42830800-42847800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:42830800-42848000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:42830800-42848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:42830800-42865400	Weak transcription	NHLF	lung
38	chr8:42830800-42865800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:42831600-42865800	Weak transcription	Right Ventricle	heart
40	chr8:42831800-42846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:42831800-42872200	Weak transcription	Gastric	stomach
42	chr8:42832200-42841400	Strong transcription	Brain Anterior Caudate	brain
43	chr8:42833000-42851200	Weak transcription	Aorta	Aorta
44	chr8:42834200-42840200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:42834400-42840200	Strong transcription	Primary B cells from cord blood	blood
46	chr8:42834400-42841200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:42834400-42841800	Weak transcription	Fetal Brain Male	brain
48	chr8:42834400-42842200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:42834800-42843600	Weak transcription	Esophagus	oesophagus
50	chr8:42834800-42844000	Weak transcription	HMEC	breast

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