Variant report

Variant	rs12234972
Chromosome Location	chr8:54673511-54673512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54672064..54673646-chr8:54673878..54676217,2	MCF-7	breast:
2	chr8:54667680..54670590-chr8:54671196..54673684,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1031979	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1031980	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10435587	0.85[CEU][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11994467	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11996300	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056486	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056719	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12115070	0.90[EUR][1000 genomes]
rs13276766	0.83[ASN][1000 genomes]
rs1552148	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919507	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.86[EUR][1000 genomes]
rs16919508	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.87[EUR][1000 genomes]
rs16919522	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919534	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919537	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs16919541	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs16919563	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16919571	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16919573	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1872063	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1905061	0.85[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128150	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2170444	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2376011	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735831	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757954	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41321146	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236945	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737192	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737518	0.87[EUR][1000 genomes]
rs4737554	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs4737558	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs4737753	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4737761	0.82[EUR][1000 genomes]
rs4737764	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737765	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4737821	0.93[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.83[YRI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737974	0.93[ASW][hapmap];0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs4738025	0.85[CEU][hapmap]
rs4738027	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs4738470	0.83[ASN][1000 genomes]
rs4738646	0.90[ASN][1000 genomes]
rs4738701	0.85[CEU][hapmap];0.86[CHB][hapmap]
rs4738884	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4738916	0.85[CEU][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55876329	0.94[ASN][1000 genomes]
rs55964335	0.89[ASN][1000 genomes]
rs56818292	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56956173	0.97[EUR][1000 genomes]
rs56973376	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57071607	0.90[EUR][1000 genomes]
rs58473841	0.83[ASN][1000 genomes]
rs58558817	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58970885	0.87[EUR][1000 genomes]
rs61070518	0.85[ASN][1000 genomes]
rs6473893	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs6984257	0.85[CEU][hapmap];0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6986372	0.81[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6987427	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6988009	0.85[CEU][hapmap];0.83[YRI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988082	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap]
rs6988808	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs6988812	0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6994851	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs6997003	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6997127	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999454	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005696	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs7006934	0.81[CHB][hapmap]
rs7009705	0.87[EUR][1000 genomes]
rs7018162	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73587624	0.82[ASN][1000 genomes]
rs73587627	0.83[ASN][1000 genomes]
rs73680316	0.92[EUR][1000 genomes]
rs73680321	0.97[EUR][1000 genomes]
rs73682549	0.86[EUR][1000 genomes]
rs73682551	0.86[EUR][1000 genomes]
rs73682555	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73682568	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73682570	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843701	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs900163	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs958268	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs9643480	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643819	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643820	0.85[CEU][hapmap];0.90[EUR][1000 genomes];0.96[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:120 , 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	chr8:54656600-54676200	Weak transcription	Aorta	Aorta
5	chr8:54656800-54680200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:54658400-54679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:54664000-54680600	Weak transcription	Hela-S3	cervix
8	chr8:54664000-54680600	Weak transcription	K562	blood
9	chr8:54667600-54676200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:54667600-54685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:54667800-54680600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:54667800-54687400	Weak transcription	Spleen	Spleen
13	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:54668000-54674000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:54668000-54677200	Weak transcription	Thymus	Thymus
16	chr8:54668000-54680400	Weak transcription	Fetal Kidney	kidney
17	chr8:54668000-54680600	Weak transcription	HSMMtube	muscle
18	chr8:54668000-54680800	Weak transcription	HSMM	muscle
19	chr8:54668000-54687400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:54668000-54703000	Weak transcription	Brain Substantia Nigra	brain
21	chr8:54669000-54675200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:54669200-54674000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:54669200-54674600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:54669200-54677400	Weak transcription	Fetal Thymus	thymus
25	chr8:54669200-54680200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:54669400-54676000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:54669400-54687400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:54670000-54675600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:54670000-54676800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:54670000-54677200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:54670000-54677400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:54670000-54677400	Weak transcription	Fetal Stomach	stomach
33	chr8:54670200-54674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:54670200-54676600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:54670200-54680400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:54670400-54679200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:54671000-54673600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:54671000-54673600	Enhancers	NHDF-Ad	bronchial
39	chr8:54671200-54677200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:54671200-54687000	Weak transcription	Fetal Brain Male	brain
41	chr8:54671600-54674400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:54671800-54676200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:54671800-54676400	Weak transcription	Fetal Brain Female	brain
44	chr8:54672000-54673600	Weak transcription	Primary B cells from cord blood	blood
45	chr8:54672000-54674600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:54672000-54678400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:54672000-54679800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:54672000-54680800	Weak transcription	Brain Germinal Matrix	brain
49	chr8:54672200-54675200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:54672200-54675200	Weak transcription	H9 Cell Line	embryonic stem cell

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