Variant report

Variant	rs12295057
Chromosome Location	chr11:87042258-87042259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:87039992-87042756	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:87035892-87046208	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM135-5	chr11:87041427-87042957	NONHSAT023520

Variant related genes	Relation type
PSMA2P1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10501636	0.84[ASN][1000 genomes]
rs10792942	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792943	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792944	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898662	0.83[AFR][1000 genomes]
rs10898667	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898669	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10898673	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898674	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898675	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898677	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898682	0.89[ASN][1000 genomes]
rs10898686	0.84[ASN][1000 genomes]
rs11235084	0.83[AFR][1000 genomes]
rs11235085	0.83[AFR][1000 genomes]
rs11235087	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11235088	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11235104	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235105	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235106	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235107	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235109	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235110	0.92[ASN][1000 genomes]
rs11235122	0.92[ASN][1000 genomes]
rs11235130	0.89[ASN][1000 genomes]
rs11501862	0.89[ASN][1000 genomes]
rs11501863	0.89[ASN][1000 genomes]
rs11604458	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12272915	0.83[AFR][1000 genomes]
rs12276145	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12279942	0.83[AFR][1000 genomes]
rs12281655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294015	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12295490	0.95[ASN][1000 genomes]
rs12361047	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363349	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12363623	0.89[ASN][1000 genomes]
rs12363892	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12790362	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2186727	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28395418	0.92[ASN][1000 genomes]
rs4245431	0.84[ASN][1000 genomes]
rs4453264	0.89[ASN][1000 genomes]
rs4471448	0.89[ASN][1000 genomes]
rs4536247	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943983	0.84[ASN][1000 genomes]
rs4944698	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4944700	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944701	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7122267	0.89[ASN][1000 genomes]
rs7125169	0.89[ASN][1000 genomes]
rs7125381	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938135	0.89[ASN][1000 genomes]
rs7951257	0.89[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	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:87018000-87042800	Weak transcription	Lung	lung
4	chr11:87021600-87042400	Weak transcription	HSMMtube	muscle
5	chr11:87027600-87043800	Weak transcription	Fetal Kidney	kidney
6	chr11:87033600-87044200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:87033800-87042800	Weak transcription	Placenta	Placenta
8	chr11:87036800-87046400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:87037400-87042400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:87038800-87043600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:87039200-87042400	Weak transcription	Primary T cells from cord blood	blood
12	chr11:87039200-87042600	Weak transcription	Liver	Liver
13	chr11:87041200-87042600	Enhancers	Fetal Lung	lung
14	chr11:87041200-87042800	Enhancers	Adipose Nuclei	Adipose
15	chr11:87041400-87042400	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:87041600-87046600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:87042200-87042600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:87042200-87042600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:87042200-87042800	Enhancers	Aorta	Aorta
20	chr11:87042200-87042800	Enhancers	Fetal Stomach	stomach

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