Variant report

Variant	rs11779676
Chromosome Location	chr8:6361758-6361759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11776519	0.87[EUR][1000 genomes]
rs11779674	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1870	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1975616	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2167071	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2408342	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916702	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2916715	0.86[EUR][1000 genomes]
rs2916716	0.86[EUR][1000 genomes]
rs2916755	0.81[EUR][1000 genomes]
rs2922804	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2922805	0.86[EUR][1000 genomes]
rs2922906	0.81[EUR][1000 genomes]
rs2959793	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2959794	0.86[EUR][1000 genomes]
rs3020212	0.81[EUR][1000 genomes]
rs34744896	0.84[EUR][1000 genomes]
rs3958765	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv890058	chr8:6329510-6367302	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv933260	chr8:6357124-6410013	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6308000-6372600	Weak transcription	HMEC	breast
2	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:6325800-6374400	Weak transcription	K562	blood
4	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:6338800-6369600	Weak transcription	Spleen	Spleen
6	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
7	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:6341000-6372000	Weak transcription	A549	lung
10	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:6341200-6369400	Weak transcription	Primary B cells from cord blood	blood
12	chr8:6341200-6371200	Weak transcription	Fetal Brain Female	brain
13	chr8:6341400-6363600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:6342400-6365600	Weak transcription	Psoas Muscle	Psoas
15	chr8:6342400-6369600	Weak transcription	NHEK	skin
16	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:6346200-6368600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:6346200-6386000	Weak transcription	NH-A	brain
20	chr8:6348400-6363600	Weak transcription	Liver	Liver
21	chr8:6350600-6369600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:6352000-6375600	Weak transcription	Aorta	Aorta
23	chr8:6352400-6391400	Weak transcription	Ovary	ovary
24	chr8:6352600-6366000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:6352600-6372800	Weak transcription	Brain Substantia Nigra	brain
26	chr8:6354000-6363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:6354600-6370600	Weak transcription	Small Intestine	intestine
28	chr8:6355600-6372800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:6355800-6367400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:6355800-6373000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:6357400-6368600	Strong transcription	Fetal Thymus	thymus
32	chr8:6357600-6366200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
34	chr8:6358200-6363600	Weak transcription	Fetal Kidney	kidney
35	chr8:6358400-6363600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:6358400-6366200	Weak transcription	Fetal Lung	lung
37	chr8:6358600-6368000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:6358800-6369800	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:6359000-6374800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:6359200-6374000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:6359600-6365600	Weak transcription	Hela-S3	cervix
43	chr8:6359800-6363800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:6360000-6362000	Strong transcription	Placenta	Placenta
45	chr8:6360000-6363000	Weak transcription	Fetal Brain Male	brain
46	chr8:6360000-6364200	Strong transcription	Dnd41	blood
47	chr8:6360200-6362200	Strong transcription	Primary T cells from cord blood	blood
48	chr8:6360200-6362600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:6360400-6361800	Weak transcription	Brain Germinal Matrix	brain
50	chr8:6360400-6362000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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