Variant report

Variant	rs7783789
Chromosome Location	chr7:50875448-50875449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50869664..50871452-chr7:50874816..50876730,2	K562	blood:
2	chr7:50871702..50877062-chr7:50877146..50881171,7	K562	blood:
3	chr7:50871147..50873341-chr7:50874686..50876829,2	K562	blood:
4	chr7:50859012..50860567-chr7:50873879..50876072,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10239980	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10272063	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10273302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10278363	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10486761	0.88[CEU][hapmap]
rs11238326	0.88[CEU][hapmap]
rs11238337	0.88[CEU][hapmap]
rs11238339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11983539	0.88[CEU][hapmap]
rs12536500	0.89[JPT][hapmap]
rs12665949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12718928	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17134002	0.89[JPT][hapmap]
rs1962390	0.88[JPT][hapmap]
rs1978208	0.87[CEU][hapmap]
rs2051893	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2051894	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2051897	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074722	0.84[CEU][hapmap]
rs2074723	0.92[CHB][hapmap]
rs2286154	0.80[CEU][hapmap]
rs2301925	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329424	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs2329494	0.92[CEU][hapmap];0.93[JPT][hapmap]
rs2715119	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs3779072	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs4947861	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4947873	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4947888	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593164	0.83[CEU][hapmap]
rs6593174	0.83[CEU][hapmap]
rs6593182	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6943901	0.88[CEU][hapmap]
rs6963498	0.88[CEU][hapmap]
rs6968827	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs6971834	0.88[CEU][hapmap]
rs6979369	0.82[CEU][hapmap]
rs757773	0.84[CEU][hapmap]
rs757774	0.83[CEU][hapmap]
rs7780348	0.88[JPT][hapmap]
rs7782797	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs7786917	0.89[CEU][hapmap]
rs7794164	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794299	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs7805310	0.92[CHB][hapmap]
rs7808929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809357	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809362	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
2	chr7:50868000-50880000	Weak transcription	Left Ventricle	heart
3	chr7:50870200-50878000	Weak transcription	Spleen	Spleen
4	chr7:50870600-50876000	Enhancers	Hela-S3	cervix
5	chr7:50871400-50879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:50871600-50876000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50871600-50879800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:50873000-50876000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:50873200-50876000	Weak transcription	Esophagus	oesophagus
10	chr7:50873600-50875600	Enhancers	Osteobl	bone
11	chr7:50873800-50879400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:50874000-50879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:50874000-50879800	Weak transcription	A549	lung
14	chr7:50874400-50879800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:50875200-50876000	Weak transcription	HMEC	breast
16	chr7:50875200-50880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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