Variant report

Variant	rs4737753
Chromosome Location	chr8:54701811-54701812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54690844..54693046-chr8:54700903..54703804,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1031979	1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs1031980	0.82[MEX][hapmap]
rs10435587	0.82[MEX][hapmap]
rs12056486	0.84[EUR][1000 genomes]
rs12056719	0.82[MEX][hapmap]
rs12115070	0.93[ASN][1000 genomes]
rs12234972	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12674661	1.00[YRI][hapmap]
rs1552148	1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs16919507	0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16919508	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.86[ASN][1000 genomes]
rs16919522	1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs16919534	0.91[MEX][hapmap];0.84[EUR][1000 genomes]
rs16919571	0.91[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs16919573	1.00[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs1872063	0.81[MEX][hapmap]
rs1905061	0.84[EUR][1000 genomes]
rs2128150	1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs2170444	1.00[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs2376011	1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs3735831	1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs3735833	1.00[YRI][hapmap]
rs41321146	0.82[MEX][hapmap]
rs4236945	0.82[MEX][hapmap]
rs4737192	1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs4737518	0.86[ASN][1000 genomes]
rs4737554	0.82[MEX][hapmap]
rs4737558	0.82[MEX][hapmap]
rs4737761	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737764	0.82[MEX][hapmap]
rs4737765	1.00[MEX][hapmap];0.93[EUR][1000 genomes]
rs4737821	0.91[MEX][hapmap]
rs4737974	0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4738025	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4738027	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4738701	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4738884	0.82[MEX][hapmap]
rs4738916	0.86[EUR][1000 genomes]
rs55682919	0.86[ASN][1000 genomes]
rs55876329	0.86[EUR][1000 genomes]
rs56818292	0.82[EUR][1000 genomes]
rs56956173	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56973376	0.86[EUR][1000 genomes]
rs57071607	0.92[ASN][1000 genomes]
rs57550901	0.87[ASN][1000 genomes]
rs58970885	0.86[ASN][1000 genomes]
rs6473893	0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6473894	0.84[GIH][hapmap]
rs6984257	0.84[EUR][1000 genomes]
rs6986372	0.82[MEX][hapmap]
rs6987427	1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs6988082	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.86[ASN][1000 genomes]
rs6988808	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs6988812	0.84[EUR][1000 genomes]
rs6994851	0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6997003	0.84[EUR][1000 genomes]
rs6997127	0.91[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs6999454	1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs7005696	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7006934	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7009705	0.87[ASN][1000 genomes]
rs7016502	1.00[YRI][hapmap]
rs7018162	0.93[EUR][1000 genomes]
rs73680316	0.93[ASN][1000 genomes]
rs73680321	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73682549	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73682551	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73682552	0.86[ASN][1000 genomes]
rs73682555	0.86[EUR][1000 genomes]
rs73682568	0.91[EUR][1000 genomes]
rs73682570	0.82[EUR][1000 genomes]
rs7843701	0.82[MEX][hapmap]
rs900163	1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs958268	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
2	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
3	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
4	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:54668000-54703000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:54673400-54703000	Weak transcription	Left Ventricle	heart
7	chr8:54673400-54704000	Weak transcription	Right Ventricle	heart
8	chr8:54676600-54702800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:54676600-54703200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:54676600-54703800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:54681000-54707400	Weak transcription	NHLF	lung
12	chr8:54681000-54726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:54681200-54704000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:54681200-54707400	Weak transcription	Hela-S3	cervix
15	chr8:54681400-54703200	Weak transcription	NHEK	skin
16	chr8:54681400-54703800	Weak transcription	HMEC	breast
17	chr8:54681400-54707600	Weak transcription	NH-A	brain
18	chr8:54682200-54703800	Weak transcription	Brain Anterior Caudate	brain
19	chr8:54683000-54702800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
21	chr8:54687600-54702800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:54687600-54711400	Weak transcription	NHDF-Ad	bronchial
23	chr8:54687600-54753600	Weak transcription	A549	lung
24	chr8:54687800-54712400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:54688000-54703000	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:54688000-54703800	Weak transcription	Small Intestine	intestine
27	chr8:54688000-54707400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:54688000-54712000	Weak transcription	Spleen	Spleen
29	chr8:54688000-54712200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:54689200-54704000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:54689600-54704000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:54689800-54702800	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:54689800-54702800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:54691800-54726400	Weak transcription	Stomach Mucosa	stomach
35	chr8:54692000-54702800	Weak transcription	HepG2	liver
36	chr8:54695400-54708000	Weak transcription	HSMMtube	muscle
37	chr8:54697600-54707800	Weak transcription	Osteobl	bone
38	chr8:54697800-54702200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:54698000-54710200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:54698200-54702000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:54698200-54702600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:54698200-54710400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:54698400-54706000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:54698600-54703000	Weak transcription	Esophagus	oesophagus
45	chr8:54698600-54703800	Weak transcription	Fetal Lung	lung
46	chr8:54698600-54703800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:54698600-54712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:54698600-54716000	Weak transcription	Fetal Heart	heart
49	chr8:54698800-54710000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:54699000-54707600	Weak transcription	Fetal Muscle Leg	muscle

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