Variant report

Variant	rs2190049
Chromosome Location	chr7:71311526-71311527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1008516	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10447536	0.85[EUR][1000 genomes]
rs11763822	0.85[EUR][1000 genomes]
rs11765964	0.84[EUR][1000 genomes]
rs11771138	0.84[EUR][1000 genomes]
rs11773010	0.84[EUR][1000 genomes]
rs12699105	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13230356	0.84[EUR][1000 genomes]
rs13240991	0.98[ASN][1000 genomes]
rs17144059	0.83[EUR][1000 genomes]
rs17340451	0.84[EUR][1000 genomes]
rs17340639	0.84[EUR][1000 genomes]
rs17424992	0.85[EUR][1000 genomes]
rs2023988	0.82[ASN][1000 genomes]
rs34799278	0.80[EUR][1000 genomes]
rs34861101	0.84[EUR][1000 genomes]
rs35027961	0.84[ASN][1000 genomes]
rs35182247	0.84[EUR][1000 genomes]
rs35210461	0.84[EUR][1000 genomes]
rs35591931	0.84[EUR][1000 genomes]
rs35971359	0.84[EUR][1000 genomes]
rs35972568	0.84[EUR][1000 genomes]
rs35991621	0.85[EUR][1000 genomes]
rs36068297	0.84[EUR][1000 genomes]
rs56317682	0.84[EUR][1000 genomes]
rs56341267	0.84[EUR][1000 genomes]
rs56890305	0.84[EUR][1000 genomes]
rs57182240	0.84[EUR][1000 genomes]
rs57324681	0.84[EUR][1000 genomes]
rs57704013	0.85[EUR][1000 genomes]
rs58040485	0.81[EUR][1000 genomes]
rs58146246	0.84[EUR][1000 genomes]
rs59411355	0.84[EUR][1000 genomes]
rs60408127	0.84[EUR][1000 genomes]
rs67293403	0.84[EUR][1000 genomes]
rs67366811	0.85[EUR][1000 genomes]
rs67473470	0.84[EUR][1000 genomes]
rs67943706	0.83[EUR][1000 genomes]
rs6948935	0.84[EUR][1000 genomes]
rs6961118	0.84[EUR][1000 genomes]
rs6965965	0.88[ASN][1000 genomes]
rs6968074	0.84[EUR][1000 genomes]
rs6969870	0.84[EUR][1000 genomes]
rs73185015	0.84[EUR][1000 genomes]
rs73185028	0.83[EUR][1000 genomes]
rs7349979	0.83[EUR][1000 genomes]
rs7790027	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1027496	chr7:71162362-71575116	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71309200-71326600	Weak transcription	Fetal Thymus	thymus
2	chr7:71309200-71333200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:71309200-71335800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:71309400-71312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:71309600-71312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71310600-71324400	Weak transcription	Thymus	Thymus
7	chr7:71311000-71311600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:71311000-71311600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:71311000-71311600	Enhancers	HUES64 Cell Line	embryonic stem cell

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