Variant report

Variant	rs62330251
Chromosome Location	chr4:143521419-143521420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143516751..143518964-chr4:143518967..143521709,2	MCF-7	breast:
2	chr4:143520541..143523136-chr4:143767058..143768735,2	MCF-7	breast:
3	chr4:143326852..143329330-chr4:143520781..143523143,2	MCF-7	breast:
4	chr4:143388165..143401257-chr4:143512284..143528837,40	MCF-7	breast:
5	chr4:143391752..143397700-chr4:143513549..143524281,24	MCF-7	breast:
6	chr4:143515194..143518460-chr4:143519756..143524261,5	MCF-7	breast:
7	chr4:143504828..143506931-chr4:143519506..143521581,2	MCF-7	breast:
8	chr4:143520357..143522520-chr4:143535203..143538604,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10000770	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10006418	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10015404	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10020322	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10020865	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11723318	0.84[ASN][1000 genomes]
rs13103597	0.86[AMR][1000 genomes]
rs13114437	0.86[AMR][1000 genomes]
rs13137056	0.84[ASN][1000 genomes]
rs13353799	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348362	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1348363	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28415364	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485272	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28673920	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28733118	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28758601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34082059	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34234953	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34393544	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34626802	0.86[EUR][1000 genomes]
rs34699252	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35255414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35366693	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36101393	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36142547	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60361448	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62331862	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834451	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6849164	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6856817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830101	chr4:143518810-143684392	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143516000-143523800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143517000-143530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:143517400-143539400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:143518400-143524200	Weak transcription	Aorta	Aorta
5	chr4:143519600-143525000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:143519800-143522800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:143520000-143536000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:143520400-143522400	Enhancers	Dnd41	blood
9	chr4:143520600-143522600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:143520600-143523800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:143520800-143524000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:143521200-143521800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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