Variant report

Variant	rs863772
Chromosome Location	chr5:80938095-80938096
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80937480..80940256-chr5:80940937..80944282,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1023747	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095605	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11957810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347597	0.92[CEU][hapmap]
rs1436498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436499	1.00[CHB][hapmap]
rs2043646	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2917542	1.00[CHB][hapmap]
rs365147	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs380946	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382297	1.00[CHB][hapmap]
rs384433	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385332	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385716	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs396231	0.80[TSI][hapmap]
rs399104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs402352	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs406292	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411520	0.86[EUR][1000 genomes]
rs413472	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs418033	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs419017	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421348	1.00[CEU][hapmap];0.84[GIH][hapmap];0.86[EUR][1000 genomes]
rs432617	0.87[EUR][1000 genomes]
rs435901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437417	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs438128	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs445253	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446064	1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs446565	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs447574	0.81[CEU][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs452314	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs453068	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454487	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs585558	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682481	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898782	0.85[CHB][hapmap]
rs724913	1.00[CHB][hapmap]
rs827065	0.96[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv527374	chr5:80938095-80964452	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
2	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
4	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
5	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
9	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
10	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
12	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:80923200-80942000	Weak transcription	Fetal Intestine Small	intestine
14	chr5:80923200-80947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:80923200-80948400	Weak transcription	K562	blood
16	chr5:80923400-80938400	Weak transcription	HUVEC	blood vessel
17	chr5:80924200-80962800	Weak transcription	Ovary	ovary
18	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:80926200-80943200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:80926200-80943400	Weak transcription	Fetal Kidney	kidney
21	chr5:80926200-80947000	Weak transcription	Fetal Brain Male	brain
22	chr5:80928600-80943600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:80929600-80940200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:80930000-80940000	Weak transcription	GM12878-XiMat	blood
25	chr5:80930400-80947400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:80930800-80945000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:80930800-80953400	Weak transcription	Right Ventricle	heart
28	chr5:80931000-80952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:80932200-80943600	Weak transcription	Fetal Brain Female	brain
30	chr5:80932200-80952000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:80932200-80952200	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:80932200-80952800	Weak transcription	Adipose Nuclei	Adipose
33	chr5:80932400-80942600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:80932400-80963000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:80932800-80940200	Weak transcription	Primary B cells from cord blood	blood
36	chr5:80932800-80947400	Weak transcription	Primary T cells from cord blood	blood
37	chr5:80933000-80938800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:80933000-80944200	Weak transcription	Thymus	Thymus
39	chr5:80933400-80938600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:80935000-80945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:80935200-80941800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:80935400-80938800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:80935400-80949400	Weak transcription	HSMMtube	muscle
44	chr5:80935600-80943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:80935600-80947600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:80935800-80939400	Weak transcription	NHLF	lung
47	chr5:80935800-80946800	Weak transcription	HSMM	muscle
48	chr5:80935800-80951800	Weak transcription	NHDF-Ad	bronchial
49	chr5:80936000-80943200	Weak transcription	Osteobl	bone
50	chr5:80936000-80951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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