Variant report

Variant	rs10877101
Chromosome Location	chr12:58730897-58730898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10877098	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11837242	0.81[AMR][1000 genomes]
rs11837243	0.81[AMR][1000 genomes]
rs12821690	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1494513	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2047171	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7965196	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv730	chr12:58698792-58759096	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1035772	chr12:58708608-58732055	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1052096	chr12:58716449-58733347	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv8976	chr12:58717951-58734512	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv435633	chr12:58720303-58731617	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3510646	chr12:58720501-58731503	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3510647	chr12:58720501-58731503	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv821340	chr12:58720652-58731851	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv826389	chr12:58720652-58731851	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv84	chr12:58720676-58746311	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv512278	chr12:58720770-58731020	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv436141	chr12:58720923-58731253	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv2448288	chr12:58721122-58731016	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv510602	chr12:58722449-58770942	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10877101	MFSD5	cis	cerebellum	SCAN
rs10877101	OBFC2B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58730600-58731200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:58730600-58731200	Enhancers	Fetal Kidney	kidney
3	chr12:58730600-58731200	Enhancers	NHLF	lung
4	chr12:58730600-58731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:58730600-58731400	Flanking Active TSS	A549	lung
6	chr12:58730600-58731400	Enhancers	Hela-S3	cervix
7	chr12:58730600-58731400	Enhancers	HepG2	liver
8	chr12:58730600-58731400	Enhancers	HUVEC	blood vessel
9	chr12:58730600-58731400	Enhancers	NH-A	brain
10	chr12:58730600-58731400	Enhancers	NHDF-Ad	bronchial
11	chr12:58730600-58731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:58730600-58731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:58730600-58731800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:58730600-58731800	Enhancers	Fetal Heart	heart
15	chr12:58730600-58732000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:58730600-58732200	Enhancers	Fetal Intestine Large	intestine
17	chr12:58730800-58731200	Enhancers	Adipose Nuclei	Adipose
18	chr12:58730800-58731200	Enhancers	NHEK	skin
19	chr12:58730800-58731400	Enhancers	HSMMtube	muscle
20	chr12:58730800-58731400	Enhancers	Osteobl	bone

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