Variant report

Variant	rs10093431
Chromosome Location	chr8:54899861-54899862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54893866..54896389-chr8:54898216..54901169,2	K562	blood:
2	chr8:54895383..54899266-chr8:54899751..54903552,4	K562	blood:
3	chr8:54899078..54901303-chr8:54931244..54934045,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10088309	0.92[YRI][hapmap]
rs10093078	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10093311	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095163	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095164	0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095679	0.86[EUR][1000 genomes]
rs10096376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102726	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102905	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10112203	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1044604	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112697	0.96[AMR][1000 genomes]
rs1112698	0.96[AMR][1000 genomes]
rs11986605	0.91[AMR][1000 genomes]
rs11988830	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988859	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11993180	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994366	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998000	0.96[AMR][1000 genomes]
rs11998659	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919750	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16919924	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28369337	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28379732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28397021	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28412019	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413072	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28431894	0.86[EUR][1000 genomes]
rs28507589	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533970	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28565202	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28707072	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28736685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704212	0.96[AMR][1000 genomes]
rs55781183	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55864901	0.96[AMR][1000 genomes]
rs56087054	0.96[AMR][1000 genomes]
rs56902942	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093383	0.96[AMR][1000 genomes]
rs58515879	0.96[AMR][1000 genomes]
rs58595525	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59087284	0.96[AMR][1000 genomes]
rs59114404	0.96[AMR][1000 genomes]
rs59277432	0.96[AMR][1000 genomes]
rs59387379	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60186893	0.96[AMR][1000 genomes]
rs60672236	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60805450	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6473899	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473901	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473902	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473903	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473905	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473906	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473907	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473908	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473910	0.82[AMR][1000 genomes]
rs6981386	0.96[AMR][1000 genomes]
rs6983650	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984119	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992073	0.96[AMR][1000 genomes]
rs7001391	0.96[AMR][1000 genomes]
rs7003793	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004808	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005653	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007031	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007176	1.00[CEU][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008593	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7011032	0.82[AMR][1000 genomes]
rs7014036	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016108	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018089	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018355	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589273	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589277	0.86[EUR][1000 genomes]
rs73589286	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73589295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590817	0.93[EUR][1000 genomes]
rs73679588	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679589	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679596	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679602	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681304	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681305	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681307	0.96[AMR][1000 genomes]
rs73681308	0.96[AMR][1000 genomes]
rs73681309	0.96[AMR][1000 genomes]
rs73681805	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681806	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815998	0.96[AMR][1000 genomes]
rs7822750	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7823234	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824355	1.00[CEU][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824979	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7833336	0.96[AMR][1000 genomes]
rs7834757	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836760	0.96[AMR][1000 genomes]
rs7839276	0.91[AMR][1000 genomes]
rs7844291	1.00[CEU][hapmap];0.96[AMR][1000 genomes]
rs7844299	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844390	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7846650	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9771960	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918912	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54876400-54908600	Weak transcription	Psoas Muscle	Psoas
3	chr8:54880400-54906600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:54880400-54916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:54880800-54916000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:54881200-54912200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:54881400-54903800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:54882600-54912600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:54887800-54901600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:54887800-54912600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:54887800-54915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:54888000-54903800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:54888000-54915400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:54888200-54912400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:54889000-54910400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:54890000-54901000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr8:54890000-54904000	Strong transcription	Liver	Liver
18	chr8:54890200-54901200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:54890200-54903800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr8:54890200-54912600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:54890600-54912600	Strong transcription	Fetal Thymus	thymus
22	chr8:54890600-54912800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:54890800-54906200	Strong transcription	Adipose Nuclei	Adipose
24	chr8:54891000-54900800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:54891000-54906400	Strong transcription	Fetal Intestine Large	intestine
26	chr8:54891000-54911600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:54892000-54911600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
29	chr8:54892400-54903800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:54893000-54907800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:54893200-54911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:54893600-54905600	Strong transcription	Brain Germinal Matrix	brain
33	chr8:54893800-54900000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:54894200-54910400	Strong transcription	Fetal Intestine Small	intestine
35	chr8:54894800-54903800	Strong transcription	Primary T cells from cord blood	blood
36	chr8:54895200-54900000	Strong transcription	NH-A	brain
37	chr8:54895200-54900800	Strong transcription	Osteobl	bone
38	chr8:54895200-54903600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr8:54895200-54903800	Strong transcription	Placenta	Placenta
40	chr8:54895200-54912600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:54895200-54913800	Strong transcription	Dnd41	blood
42	chr8:54895400-54900600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:54895400-54900800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr8:54895400-54901400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr8:54895400-54902000	Strong transcription	HMEC	breast
46	chr8:54895400-54903800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:54895400-54905600	Strong transcription	GM12878-XiMat	blood
48	chr8:54895600-54900600	Strong transcription	NHDF-Ad	bronchial
49	chr8:54895600-54904000	Strong transcription	NHEK	skin
50	chr8:54895600-54906000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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