Variant report

Variant	rs435070
Chromosome Location	chr5:80981992-80981993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10213685	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2972227	0.84[CHD][hapmap]
rs2973335	0.84[CHD][hapmap]
rs369382	0.92[EUR][1000 genomes]
rs373479	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs374700	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs401912	0.90[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs402390	0.90[CEU][hapmap];0.84[CHB][hapmap];0.92[EUR][1000 genomes]
rs406465	0.81[CHD][hapmap]
rs433366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs454578	0.90[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs827059	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
2	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
3	chr5:80963400-80983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:80963400-80983400	Weak transcription	Left Ventricle	heart
5	chr5:80963400-80983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
8	chr5:80973400-80990000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:80974800-80984200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:80976000-80982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:80976000-80996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:80976800-80982800	Weak transcription	HSMM	muscle
13	chr5:80978200-80984400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:80979000-80983800	Weak transcription	Primary T cells from cord blood	blood
15	chr5:80979200-80982800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:80980000-80982800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:80980000-80984600	Weak transcription	Fetal Lung	lung
18	chr5:80980600-80996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:80980800-80982800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:80980800-80983200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:80980800-80983600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:80981000-80989000	Weak transcription	Psoas Muscle	Psoas
23	chr5:80981200-80982800	Weak transcription	Primary B cells from cord blood	blood
24	chr5:80981200-80983800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:80981200-80985200	Weak transcription	Right Atrium	heart
26	chr5:80981400-80982000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:80981400-80983000	Weak transcription	Fetal Intestine Large	intestine
28	chr5:80981400-80983200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:80981400-80984800	Genic enhancers	Dnd41	blood
30	chr5:80981600-80982800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:80981600-80982800	Weak transcription	Fetal Thymus	thymus
32	chr5:80981600-80982800	Weak transcription	Thymus	Thymus
33	chr5:80981600-80986400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:80981800-80982800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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