Variant report

Variant	rs1872063
Chromosome Location	chr8:54726352-54726353
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	chr8:54726065..54728887-chr8:54733160..54735179,2	MCF-7	breast:
2	chr8:54725647..54728988-chr8:54753947..54756397,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1031979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.94[ASN][1000 genomes]
rs1031980	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10435587	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10504158	0.82[YRI][hapmap]
rs11994467	0.81[ASN][1000 genomes]
rs11996300	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056486	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12056719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12115070	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12234972	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]
rs1552148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16919507	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[MEX][hapmap]
rs16919508	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16919522	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs16919534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[ASN][1000 genomes]
rs16919537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16919541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16919563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919571	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1905061	1.00[CEU][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2128150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2170444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2376011	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs3735831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3757954	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41321146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4236945	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[ASN][1000 genomes]
rs4737518	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4737554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4737558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4737753	0.81[MEX][hapmap]
rs4737761	0.85[CEU][hapmap]
rs4737764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737765	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4737821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737974	1.00[CEU][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4738025	1.00[CEU][hapmap]
rs4738027	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4738470	0.86[AMR][1000 genomes]
rs4738646	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4738701	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes]
rs4738884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs4738916	1.00[CEU][hapmap];0.89[ASN][1000 genomes]
rs55682919	0.84[AMR][1000 genomes]
rs55876329	0.94[ASN][1000 genomes]
rs55964335	0.92[ASN][1000 genomes]
rs56818292	0.86[ASN][1000 genomes]
rs56956173	0.87[EUR][1000 genomes]
rs56973376	0.92[ASN][1000 genomes]
rs57071607	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57550901	0.84[AMR][1000 genomes]
rs58473841	0.91[AMR][1000 genomes]
rs58558817	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58970885	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61070518	0.81[ASN][1000 genomes]
rs6473893	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs6984257	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986372	0.82[ASW][hapmap];0.85[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs6988009	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6988082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs6988808	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6988812	0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994851	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs6997003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6999454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs7005696	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs7006934	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs7009705	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7017291	0.82[YRI][hapmap]
rs7018162	1.00[CEU][hapmap];0.95[ASN][1000 genomes]
rs73587624	0.89[AMR][1000 genomes]
rs73587627	0.91[AMR][1000 genomes]
rs73680316	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73680321	0.87[EUR][1000 genomes]
rs73682552	0.80[AMR][1000 genomes]
rs73682555	0.90[ASN][1000 genomes]
rs73682568	0.90[ASN][1000 genomes]
rs73682570	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7387704	0.86[AMR][1000 genomes]
rs7843701	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs900163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs958268	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9643480	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643819	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643820	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
2	chr8:54687600-54753600	Weak transcription	A549	lung
3	chr8:54691800-54726400	Weak transcription	Stomach Mucosa	stomach
4	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:54700200-54731600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:54703000-54728000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:54705400-54727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:54707800-54740400	Weak transcription	K562	blood
9	chr8:54709000-54740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:54710000-54733000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:54713000-54726400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:54713200-54726400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:54713200-54740200	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:54714200-54740600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:54715800-54731600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:54716000-54726400	Weak transcription	Fetal Intestine Small	intestine
20	chr8:54716000-54730800	Strong transcription	Primary B cells from cord blood	blood
21	chr8:54716400-54730400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:54716400-54731400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:54716400-54732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:54717600-54730600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:54717800-54731200	Strong transcription	Placenta	Placenta
26	chr8:54719400-54727200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:54719400-54730600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:54719400-54730600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr8:54719400-54730600	Strong transcription	Dnd41	blood
30	chr8:54719400-54731400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:54719400-54731400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:54719600-54730600	Strong transcription	Fetal Thymus	thymus
33	chr8:54719800-54730600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:54720000-54730400	Strong transcription	Left Ventricle	heart
35	chr8:54720000-54731200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:54720000-54745800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:54720200-54740400	Weak transcription	Fetal Heart	heart
38	chr8:54720600-54731400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
40	chr8:54721000-54726400	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:54721000-54730800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:54721400-54726400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:54721400-54731400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:54721600-54727400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:54721600-54728000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:54721600-54730400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:54721600-54730600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:54721600-54730600	Strong transcription	Adipose Nuclei	Adipose
49	chr8:54721800-54731200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:54721800-54740400	Weak transcription	Fetal Brain Male	brain

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