Variant report

Variant	rs7710001
Chromosome Location	chr5:80991784-80991785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80991735..80993822-chr5:80998688..81000196,2	K562	blood:
2	chr5:80983475..80985751-chr5:80991739..80993703,2	MCF-7	breast:
3	chr5:80991735..80994087-chr5:80998688..81001325,2	K562	blood:
4	chr5:80987236..80988906-chr5:80991479..80993705,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10053226	1.00[ASN][1000 genomes]
rs10059425	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062494	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064938	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074416	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074423	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078696	0.83[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473850	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474035	1.00[TSI][hapmap]
rs10942277	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942278	0.83[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942279	0.83[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359852	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360410	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360536	0.83[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362287	0.83[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373965	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899102	1.00[MEX][hapmap]
rs16899116	0.85[TSI][hapmap]
rs28825230	1.00[ASN][1000 genomes]
rs55792529	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57778735	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050716	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58238009	1.00[ASN][1000 genomes]
rs58937248	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59261412	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452422	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872195	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882480	0.85[TSI][hapmap]
rs6887447	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897373	1.00[TSI][hapmap]
rs73135661	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137634	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137639	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137646	1.00[AFR][1000 genomes]
rs73137662	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707946	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710903	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7729317	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736720	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293277	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3345018	chr5:80972245-80998709	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3330268	chr5:80972245-81001669	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription 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 lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
2	chr5:80976000-80996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:80980600-80996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:80983800-80992400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
6	chr5:80984000-80996000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:80984000-81011600	Weak transcription	Lung	lung
8	chr5:80984200-80995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:80984200-80996000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
11	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:80984600-80992200	Weak transcription	Thymus	Thymus
13	chr5:80984600-80992400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:80984600-80992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:80984600-80995800	Weak transcription	Aorta	Aorta
16	chr5:80985600-80996200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:80988000-80992000	Weak transcription	Fetal Brain Female	brain
18	chr5:80988600-80995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:80988600-80995400	Weak transcription	Primary B cells from cord blood	blood
20	chr5:80988600-80995800	Weak transcription	Primary T cells from cord blood	blood
21	chr5:80988600-80995800	Weak transcription	Fetal Lung	lung
22	chr5:80988800-80992000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:80989200-80992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:80989200-80992000	Weak transcription	Psoas Muscle	Psoas
25	chr5:80989200-80995000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:80989200-80995400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:80989200-80995600	Weak transcription	Fetal Stomach	stomach
28	chr5:80989400-80991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:80990000-80992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:80990000-80992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:80990200-80992600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:80990600-80995800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:80990800-80992000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:80990800-80999200	Weak transcription	Ovary	ovary
35	chr5:80991000-80992200	Weak transcription	Right Atrium	heart
36	chr5:80991000-80993000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:80991000-80995400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:80991200-80992600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:80991600-80992200	Strong transcription	Fetal Thymus	thymus
40	chr5:80991600-80996000	Strong transcription	Dnd41	blood

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