Variant report

Variant	rs73269188
Chromosome Location	chr8:95838346-95838347
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95836909..95838955-chr8:95907665..95909359,2	K562	blood:
2	chr8:95834990..95838474-chr8:95840154..95845395,5	K562	blood:
3	chr8:95837308..95840222-chr8:95842843..95845160,2	K562	blood:
4	chr8:95825181..95829614-chr8:95834341..95841614,7	MCF-7	breast:
5	chr8:95837420..95840153-chr8:95849524..95852772,3	MCF-7	breast:
6	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
7	chr8:95730539..95733622-chr8:95834206..95838888,6	K562	blood:

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10956927	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774806	0.93[ASN][1000 genomes]
rs11775475	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775899	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11776131	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776489	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776687	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777132	0.92[EUR][1000 genomes]
rs11777353	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778250	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779041	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779252	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781099	0.93[ASN][1000 genomes]
rs11781188	0.90[ASN][1000 genomes]
rs11781429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781712	0.96[EUR][1000 genomes]
rs11781843	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783522	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11783589	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784299	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786021	0.93[ASN][1000 genomes]
rs11786088	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786389	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786429	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786451	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787442	0.93[ASN][1000 genomes]
rs12056517	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056808	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16893774	0.92[EUR][1000 genomes]
rs16917079	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917081	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917082	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917093	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16917102	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16917117	0.82[EUR][1000 genomes]
rs17359493	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399553	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399563	0.92[EUR][1000 genomes]
rs28399571	0.89[EUR][1000 genomes]
rs4073916	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075834	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345531	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4355737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57063661	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57773845	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489999	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58675831	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59091366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59265059	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521030	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171840	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986418	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989591	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009940	0.80[EUR][1000 genomes]
rs73269162	0.93[ASN][1000 genomes]
rs73269170	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269191	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269198	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271148	0.97[EUR][1000 genomes]
rs73271178	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834966	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95836200-95840800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95836200-95840800	Weak transcription	Esophagus	oesophagus
3	chr8:95836200-95840800	Weak transcription	Gastric	stomach
4	chr8:95836200-95841200	Weak transcription	Spleen	Spleen
5	chr8:95836200-95841600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:95836200-95846000	Weak transcription	Lung	lung
7	chr8:95836600-95838400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:95836600-95840000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:95836600-95841200	Weak transcription	Pancreas	Pancrea
10	chr8:95836600-95841400	Weak transcription	Aorta	Aorta
11	chr8:95836600-95848200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:95836800-95838400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:95836800-95838600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:95836800-95838800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:95836800-95839400	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:95836800-95839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:95836800-95839400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:95836800-95839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:95836800-95839600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:95836800-95839800	Weak transcription	A549	lung
21	chr8:95836800-95840800	Weak transcription	Left Ventricle	heart
22	chr8:95836800-95841400	Weak transcription	Ovary	ovary
23	chr8:95836800-95841400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:95836800-95845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:95836800-95847000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:95836800-95850800	Weak transcription	HSMMtube	muscle
27	chr8:95836800-95866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:95837000-95838400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:95837000-95838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:95837000-95838800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr8:95837000-95839000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:95837000-95839400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:95837000-95839400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:95837000-95839400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:95837000-95839600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:95837000-95839600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:95837000-95839600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:95837000-95840000	Weak transcription	Fetal Stomach	stomach
40	chr8:95837000-95840200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:95837000-95840400	Weak transcription	Placenta	Placenta
42	chr8:95837000-95840600	Weak transcription	NHDF-Ad	bronchial
43	chr8:95837000-95840800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:95837000-95840800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:95837000-95840800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:95837000-95840800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:95837000-95840800	Weak transcription	Colonic Mucosa	Colon
48	chr8:95837000-95840800	Weak transcription	Fetal Kidney	kidney
49	chr8:95837000-95840800	Weak transcription	Fetal Lung	lung
50	chr8:95837000-95841200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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