Variant report

Variant	rs4882641
Chromosome Location	chr12:74908183-74908184
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74907509..74911440-chr12:74920218..74923279,3	K562	blood:
2	chr12:74905829..74910611-chr12:74911058..74915659,4	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10161125	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785122	0.82[ASN][1000 genomes]
rs10785124	0.93[ASN][1000 genomes]
rs10785127	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180093	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12230764	0.82[ASN][1000 genomes]
rs12816388	0.82[CHB][hapmap];0.96[JPT][hapmap];0.89[ASN][1000 genomes]
rs1389492	0.85[ASN][1000 genomes]
rs1461050	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs1493797	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1493805	0.84[ASN][1000 genomes]
rs1493806	0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2445435	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2605331	0.94[ASN][1000 genomes]
rs2605338	0.81[ASN][1000 genomes]
rs2605376	0.82[ASN][1000 genomes]
rs2613882	0.82[ASN][1000 genomes]
rs2613887	0.90[ASN][1000 genomes]
rs2613888	0.82[ASN][1000 genomes]
rs2613891	0.94[ASN][1000 genomes]
rs2613895	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2613901	0.82[ASN][1000 genomes]
rs2613903	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2641467	0.82[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2641468	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2641481	0.92[ASN][1000 genomes]
rs2886510	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4882642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582223	0.82[JPT][hapmap]
rs66629941	0.82[ASN][1000 genomes]
rs7955282	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv559414	chr12:74850206-74931349	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv469475	chr12:74857957-74922723	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv469476	chr12:74857957-74922723	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv559416	chr12:74857957-74922723	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv559417	chr12:74857957-74931349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
12	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	esv991250	chr12:74904557-74913702	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74908000-74908200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:74908000-74908200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:74908000-74908200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:74908000-74908200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr12:74908000-74908400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:74908000-74908400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:74908000-74908400	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links