Variant report

Variant	rs1048904
Chromosome Location	chr11:34684543-34684544
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34683526..34685341-chr11:34687454..34689901,2	K562	blood:
2	chr11:34675426..34678725-chr11:34681137..34686486,6	MCF-7	breast:
3	chr11:34679939..34683842-chr11:34684452..34687073,3	MCF-7	breast:
4	chr11:34675778..34678396-chr11:34681432..34685655,3	K562	blood:
5	chr11:34683754..34686000-chr11:34698951..34701034,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10836269	0.99[ASN][1000 genomes]
rs10836278	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10836279	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10836281	0.81[EUR][1000 genomes]
rs11032801	0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs11032803	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11032807	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032808	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032821	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11032824	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11032833	0.83[EUR][1000 genomes]
rs11529953	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12574908	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1377492	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1418188	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1418189	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1453381	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2027495	0.83[EUR][1000 genomes]
rs2274438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2281909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs286889	0.90[JPT][hapmap];0.86[MEX][hapmap]
rs286896	0.85[JPT][hapmap];0.81[MEX][hapmap]
rs286897	0.85[JPT][hapmap]
rs4403781	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs972857	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs972858	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1045130	chr11:34641598-34777725	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1052192	chr11:34641598-34781288	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv467788	chr11:34642493-34770494	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv553998	chr11:34642493-34770494	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv518807	chr11:34642493-34780936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv519718	chr11:34642493-34780936	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv467789	chr11:34642493-34780936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv467790	chr11:34642493-34780936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv553999	chr11:34642493-34780936	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv554000	chr11:34643780-34780936	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1048904	APIP	cis	cerebellum	SCAN
rs1048904	CD59	cis	parietal	SCAN
rs1048904	APIP	cis	Adipose Subcutaneous	GTEx
rs1048904	APIP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34674800-34689200	Weak transcription	Gastric	stomach
2	chr11:34676000-34685200	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr11:34676400-34685400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:34676600-34689200	Weak transcription	Esophagus	oesophagus
5	chr11:34677000-34688800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:34678200-34689600	Weak transcription	Stomach Mucosa	stomach
7	chr11:34678800-34686000	Weak transcription	A549	lung
8	chr11:34681400-34686400	Weak transcription	Colonic Mucosa	Colon
9	chr11:34681600-34685000	Weak transcription	HepG2	liver
10	chr11:34681600-34689200	Weak transcription	Pancreas	Pancrea
11	chr11:34683400-34687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:34683400-34687200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:34683600-34686600	Weak transcription	NHEK	skin
14	chr11:34683800-34689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:34684000-34685200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:34684000-34685600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:34684000-34686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:34684200-34686200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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