Variant report

Variant	rs10036284
Chromosome Location	chr5:92524530-92524531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10043203	1.00[ASN][1000 genomes]
rs11741835	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242245	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7443770	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv830400	chr5:92515026-92738896	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830401	chr5:92518294-92703611	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3447545	chr5:92521496-92524994	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10036284	MCTP1	cis	cerebellum	SCAN
rs10036284	ANKRD32	cis	parietal	SCAN
rs10036284	MBLAC2	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92521800-92528000	Weak transcription	Fetal Kidney	kidney
2	chr5:92522000-92524600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:92522000-92524600	Weak transcription	HSMM	muscle
4	chr5:92522000-92524800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:92522200-92524600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:92522200-92524600	Weak transcription	HMEC	breast
7	chr5:92522200-92524600	Weak transcription	NHLF	lung
8	chr5:92522400-92524600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:92522400-92524600	Weak transcription	HUVEC	blood vessel
10	chr5:92522400-92524600	Weak transcription	NH-A	brain
11	chr5:92522400-92524600	Weak transcription	NHEK	skin
12	chr5:92522400-92525200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:92522600-92524800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:92522600-92525200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:92522600-92525200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:92522800-92524600	Weak transcription	Osteobl	bone
17	chr5:92522800-92525000	Weak transcription	NHDF-Ad	bronchial
18	chr5:92523000-92524800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:92523400-92530000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:92523600-92524600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:92524400-92524800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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