Variant report

Variant	rs4018749
Chromosome Location	chr2:182685535-182685536
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182684155..182686496-chr2:182687932..182689511,2	MCF-7	breast:
2	chr2:182685284..182687547-chr2:182730899..182732753,2	MCF-7	breast:
3	chr2:182683095..182685729-chr2:182754698..182757581,2	K562	blood:

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10183527	0.86[ASN][1000 genomes]
rs10183937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10190772	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs10803953	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10930979	0.80[ASN][1000 genomes]
rs11884097	0.86[ASN][1000 genomes]
rs11886921	0.85[ASN][1000 genomes]
rs11895376	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs11901603	0.86[ASN][1000 genomes]
rs11902910	0.86[ASN][1000 genomes]
rs12620901	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs13414894	0.86[ASN][1000 genomes]
rs13415272	0.86[ASN][1000 genomes]
rs13424337	0.86[ASN][1000 genomes]
rs13428496	0.86[ASN][1000 genomes]
rs1343793	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs16867502	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16867503	0.88[JPT][hapmap]
rs16867504	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2037799	0.85[ASN][1000 genomes]
rs2368225	0.85[ASN][1000 genomes]
rs4508561	0.94[ASN][1000 genomes]
rs57930770	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60384758	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6740944	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6754481	0.86[ASN][1000 genomes]
rs6758834	0.84[ASN][1000 genomes]
rs7567220	0.86[ASN][1000 genomes]
rs7567371	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7595805	0.84[ASN][1000 genomes]
rs9288073	0.86[ASN][1000 genomes]
rs9288074	0.86[ASN][1000 genomes]
rs937296	0.96[ASN][1000 genomes]
rs951542	0.86[ASN][1000 genomes]
rs951543	0.86[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182676800-182686400	Weak transcription	Pancreas	Pancrea
2	chr2:182682200-182695400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:182683800-182686400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:182684200-182685800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:182684600-182685600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:182685400-182686400	Weak transcription	Fetal Thymus	thymus

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