Variant report

Variant	rs62049032
Chromosome Location	chr16:70477178-70477179
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70466259..70467878-chr16:70477117..70478752,2	K562	blood:
2	chr16:70470745..70475630-chr16:70476191..70481668,5	MCF-7	breast:
3	chr16:70471110..70472642-chr16:70476908..70478527,2	K562	blood:

Variant related genes	Relation type
ENSG00000157350	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12149396	0.80[ASN][1000 genomes]
rs4985409	0.80[ASN][1000 genomes]
rs4985526	0.80[ASN][1000 genomes]
rs55936521	0.80[ASN][1000 genomes]
rs62049031	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8062183	0.93[AMR][1000 genomes];0.84[EUR][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs62049032	CLEC18A	cis	Thyroid	GTEx
rs62049032	RP11-296I10.6	cis	Thyroid	GTEx
rs62049032	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs62049032	PDXDC2P	cis	Thyroid	GTEx
rs62049032	RP11-296I10.6	cis	Artery Tibial	GTEx
rs62049032	RP11-419C5.2	cis	Adipose Subcutaneous	GTEx
rs62049032	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs62049032	CLEC18C	cis	Whole Blood	GTEx
rs62049032	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs62049032	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs62049032	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs62049032	EXOSC6	cis	Muscle Skeletal	GTEx
rs62049032	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs62049032	CLEC18A	cis	Whole Blood	GTEx
rs62049032	EXOSC6	cis	Artery Tibial	GTEx
rs62049032	RP11-419C5.2	cis	Thyroid	GTEx
rs62049032	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs62049032	CLEC18A	cis	Artery Tibial	GTEx
rs62049032	CLEC18A	cis	Artery Aorta	GTEx
rs62049032	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs62049032	CLEC18C	cis	lung	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70473800-70478200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:70473800-70478200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:70473800-70480600	Weak transcription	Colonic Mucosa	Colon
4	chr16:70473800-70484800	Weak transcription	Right Atrium	heart
5	chr16:70474000-70477200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:70474000-70477800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr16:70474000-70478200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr16:70474000-70478400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:70474000-70478400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:70474000-70478600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:70474000-70480800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:70474200-70477400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:70474200-70478200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:70474200-70478400	Weak transcription	Stomach Mucosa	stomach
15	chr16:70474200-70478400	Weak transcription	GM12878-XiMat	blood
16	chr16:70474200-70479000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr16:70474200-70479000	Weak transcription	Small Intestine	intestine
18	chr16:70474400-70478200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:70474400-70484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:70475800-70477200	Weak transcription	Fetal Intestine Large	intestine
21	chr16:70475800-70477200	Weak transcription	Fetal Intestine Small	intestine
22	chr16:70475800-70479000	Enhancers	HepG2	liver
23	chr16:70476000-70477200	Weak transcription	K562	blood

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