Variant report

Variant	rs11503904
Chromosome Location	chr12:50786595-50786596
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10506293	0.81[ASN][1000 genomes]
rs10747580	0.81[ASN][1000 genomes]
rs10747581	0.81[ASN][1000 genomes]
rs10876030	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11169408	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169427	0.81[ASN][1000 genomes]
rs12824882	0.83[AFR][1000 genomes]
rs17119778	0.83[ASN][1000 genomes]
rs4768877	0.82[ASN][1000 genomes]
rs4768880	0.84[AFR][1000 genomes]
rs4768928	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4768936	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57578212	0.82[ASN][1000 genomes]
rs58869591	0.81[ASN][1000 genomes]
rs60610745	0.84[ASN][1000 genomes]
rs6580754	0.80[AFR][1000 genomes]
rs7133488	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7295610	0.83[ASN][1000 genomes]
rs7296212	0.85[ASN][1000 genomes]
rs7299321	0.83[ASN][1000 genomes]
rs7300828	0.84[AMR][1000 genomes]
rs7965165	0.81[ASN][1000 genomes]
rs7978625	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50781800-50794000	Weak transcription	Fetal Kidney	kidney
2	chr12:50782000-50790400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:50782000-50794000	Weak transcription	Fetal Heart	heart
4	chr12:50782400-50790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:50782800-50794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:50784800-50787400	Weak transcription	HepG2	liver
7	chr12:50784800-50787600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:50784800-50788000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:50784800-50788000	Weak transcription	Osteobl	bone
10	chr12:50784800-50788200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:50784800-50788600	Weak transcription	A549	lung
12	chr12:50784800-50790000	Weak transcription	NH-A	brain
13	chr12:50784800-50790400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:50785000-50788000	Weak transcription	NHDF-Ad	bronchial
15	chr12:50785000-50789800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:50785000-50790000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:50785000-50790000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:50785000-50790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:50785000-50790400	Weak transcription	HMEC	breast
20	chr12:50785000-50794000	Weak transcription	HUVEC	blood vessel
21	chr12:50785600-50787600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:50785600-50790200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:50785800-50788600	Weak transcription	Hela-S3	cervix
24	chr12:50786400-50787000	Active TSS	Placenta	Placenta

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