Variant report

Variant	rs10106803
Chromosome Location	chr8:48685887-48685888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10093950	0.83[AFR][1000 genomes]
rs10099656	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs10102782	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs10104074	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs10108990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111963	0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11987727	0.83[AFR][1000 genomes]
rs11997023	0.94[YRI][hapmap];0.96[AFR][1000 genomes]
rs28366397	0.83[AFR][1000 genomes]
rs28407704	0.80[AFR][1000 genomes]
rs28439682	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583978	0.94[AFR][1000 genomes]
rs28603312	0.96[AFR][1000 genomes]
rs28683713	0.94[AFR][1000 genomes]
rs28701667	0.81[AFR][1000 genomes]
rs28812773	0.81[AFR][1000 genomes]
rs28895958	0.89[AFR][1000 genomes]
rs34142661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6473874	0.85[AFR][1000 genomes]
rs6980675	0.94[YRI][hapmap];0.96[AFR][1000 genomes]
rs6982040	0.91[AFR][1000 genomes]
rs6982203	0.81[AFR][1000 genomes]
rs6992748	1.00[AMR][1000 genomes]
rs7003614	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7010172	0.98[AFR][1000 genomes]
rs73677550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819424	0.85[AFR][1000 genomes]
rs7823419	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs7839604	0.81[AFR][1000 genomes]
rs8177999	0.94[YRI][hapmap]
rs8178117	0.85[AFR][1000 genomes]
rs8178176	0.83[AFR][1000 genomes]
rs8178185	0.85[AFR][1000 genomes]
rs8178240	0.82[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48674800-48686200	Weak transcription	Brain Substantia Nigra	brain
2	chr8:48674800-48686400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:48675000-48686600	Weak transcription	HSMMtube	muscle
4	chr8:48675200-48686600	Weak transcription	Brain Angular Gyrus	brain
5	chr8:48675800-48686800	Weak transcription	NHEK	skin
6	chr8:48676000-48686000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:48676000-48686400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:48676200-48686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:48676200-48686200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:48676400-48686600	Weak transcription	Thymus	Thymus
11	chr8:48676400-48687000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:48676600-48686000	Weak transcription	Primary T cells from cord blood	blood
13	chr8:48676600-48686400	Weak transcription	Right Ventricle	heart
14	chr8:48676600-48686600	Weak transcription	NHDF-Ad	bronchial
15	chr8:48676600-48689000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:48676800-48686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:48676800-48686400	Weak transcription	Fetal Kidney	kidney
18	chr8:48677000-48686000	Weak transcription	Esophagus	oesophagus
19	chr8:48677000-48689000	Weak transcription	Pancreas	Pancrea
20	chr8:48677000-48689200	Weak transcription	Gastric	stomach
21	chr8:48677400-48690200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:48677600-48686600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:48677600-48686600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:48677600-48686600	Weak transcription	Spleen	Spleen
25	chr8:48677600-48688400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:48677600-48689800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:48677800-48686200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:48678000-48686000	Weak transcription	Fetal Stomach	stomach
29	chr8:48678000-48689000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:48678200-48686200	Weak transcription	Lung	lung
31	chr8:48678200-48686400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:48678200-48693800	Weak transcription	Stomach Mucosa	stomach
33	chr8:48678400-48686000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:48678400-48700000	Weak transcription	Small Intestine	intestine
35	chr8:48679200-48686200	Weak transcription	HepG2	liver
36	chr8:48679400-48690800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:48679600-48686400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:48679800-48709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:48680000-48686000	Weak transcription	Brain Germinal Matrix	brain
40	chr8:48680200-48686600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:48682200-48686400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr8:48682200-48686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:48682600-48686000	Weak transcription	Fetal Lung	lung
44	chr8:48682800-48686200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:48683200-48686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:48683200-48686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:48683600-48686200	Weak transcription	Colonic Mucosa	Colon
48	chr8:48683800-48686600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:48683800-48686600	Weak transcription	Left Ventricle	heart
50	chr8:48684000-48686200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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