Variant report

Variant	rs73747970
Chromosome Location	chr5:35777306-35777307
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:35777280-35777430	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:35775517..35778648-chr5:35922425..35925646,3	MCF-7	breast:

Variant related genes	Relation type
SPEF2	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10058723	1.00[ASN][1000 genomes]
rs10079269	0.89[ASN][1000 genomes]
rs10079517	0.95[ASN][1000 genomes]
rs11951270	0.84[ASN][1000 genomes]
rs11953960	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11954459	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11954524	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11958548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2277042	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2277044	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35908401	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4346794	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4361544	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4361545	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4634378	0.95[ASN][1000 genomes]
rs56016314	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56053392	0.81[ASN][1000 genomes]
rs56169453	0.89[ASN][1000 genomes]
rs56276485	0.89[ASN][1000 genomes]
rs56349002	0.95[ASN][1000 genomes]
rs57116204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57681685	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58390944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58522285	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58846527	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59217391	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60501022	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61180877	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61373681	1.00[ASN][1000 genomes]
rs6860528	0.95[ASN][1000 genomes]
rs6861184	1.00[ASN][1000 genomes]
rs6875303	0.95[ASN][1000 genomes]
rs6881747	0.84[ASN][1000 genomes]
rs73086237	0.84[ASN][1000 genomes]
rs73086251	0.89[ASN][1000 genomes]
rs73086255	0.89[ASN][1000 genomes]
rs73086261	0.89[ASN][1000 genomes]
rs73086281	0.89[ASN][1000 genomes]
rs73747933	0.89[ASN][1000 genomes]
rs73747964	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747971	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747973	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747974	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747976	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73747977	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747978	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747980	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73747983	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7700501	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7700688	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7730148	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9292611	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525477	chr5:35530905-35792990	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35771000-35781800	Weak transcription	Brain Anterior Caudate	brain
2	chr5:35772200-35777400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:35772400-35780600	Weak transcription	HSMM	muscle
4	chr5:35772800-35778000	Weak transcription	Fetal Thymus	thymus
5	chr5:35772800-35778000	Weak transcription	Thymus	Thymus
6	chr5:35774600-35780800	Weak transcription	NHDF-Ad	bronchial
7	chr5:35774600-35781000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:35775000-35779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:35775400-35777400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:35776400-35777600	Enhancers	Hela-S3	cervix
11	chr5:35776800-35777600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:35776800-35780400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:35777000-35777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:35777000-35777400	Enhancers	NHLF	lung
15	chr5:35777000-35777600	Enhancers	Osteobl	bone
16	chr5:35777000-35778000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:35777000-35778000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:35777000-35778000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:35777000-35778200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:35777000-35780400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:35777000-35780600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:35777000-35780800	Weak transcription	HUVEC	blood vessel
23	chr5:35777200-35778000	Enhancers	Primary T cells from cord blood	blood
24	chr5:35777200-35778400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:35777200-35780000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr5:35777200-35780400	Enhancers	Primary T helper cells fromperipheralblood	blood

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