Variant report

Variant	rs2354346
Chromosome Location	chr6:117798509-117798510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117797620..117801329-chr6:117802925..117805407,3	MCF-7	breast:
2	chr6:117797831..117799702-chr6:117802515..117805127,4	MCF-7	breast:
3	chr6:117788477..117790267-chr6:117797772..117800406,2	MCF-7	breast:
4	chr6:117797897..117799784-chr6:117801599..117803963,2	K562	blood:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10782186	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12527127	0.86[ASN][1000 genomes]
rs12528785	0.92[ASN][1000 genomes]
rs2057314	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2105907	0.89[ASN][1000 genomes]
rs2180811	0.82[AMR][1000 genomes]
rs2883418	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34431655	0.93[ASN][1000 genomes]
rs34882116	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4945584	0.82[AFR][1000 genomes]
rs4945586	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4946256	0.82[AMR][1000 genomes]
rs4946258	0.91[ASN][1000 genomes]
rs4946259	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4946260	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6911915	0.89[ASN][1000 genomes]
rs6937083	0.82[AMR][1000 genomes]
rs6940922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929057	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs929058	0.86[ASN][1000 genomes]
rs9320604	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9374662	0.80[AMR][1000 genomes]
rs9387478	0.82[AMR][1000 genomes]
rs9387479	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9387481	0.85[ASN][1000 genomes]
rs9481728	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9489213	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9688361	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2354346	DCBLD1	cis	Adipose Subcutaneous	GTEx
rs2354346	DCBLD1	cis	Thyroid	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117794800-117799200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:117797200-117800600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:117798200-117800200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:117798200-117800200	Enhancers	Fetal Intestine Large	intestine
5	chr6:117798400-117798600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:117798400-117798600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:117798400-117798600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:117798400-117798600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:117798400-117798600	Enhancers	Small Intestine	intestine
10	chr6:117798400-117798800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:117798400-117798800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:117798400-117799200	Enhancers	HepG2	liver
13	chr6:117798400-117799400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:117798400-117799400	Enhancers	GM12878-XiMat	blood
15	chr6:117798400-117800000	Enhancers	HUES6 Cell Line	embryonic stem cell

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