Variant report

Variant	rs2180811
Chromosome Location	chr6:117780158-117780159
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117779599..117781620-chr6:117784627..117786769,2	K562	blood:
2	chr6:117778227..117782608-chr6:117922454..117926248,4	MCF-7	breast:
3	chr6:117779054..117781463-chr6:117894101..117895608,2	K562	blood:
4	chr6:117774730..117776749-chr6:117778089..117780267,2	K562	blood:

Variant related genes	Relation type
ENSG00000047932	Chromatin interaction
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10782186	0.85[CHB][hapmap]
rs1321798	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs1321799	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs1321802	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs1321803	0.82[EUR][1000 genomes]
rs1321815	0.90[EUR][1000 genomes]
rs1321816	0.89[EUR][1000 genomes]
rs1407179	0.84[CEU][hapmap]
rs1407184	0.83[JPT][hapmap]
rs1407185	0.85[EUR][1000 genomes]
rs1853148	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2057314	0.86[CHB][hapmap];0.80[AMR][1000 genomes]
rs2243	0.83[JPT][hapmap]
rs2243378	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2273602	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2354346	0.82[AMR][1000 genomes]
rs2883418	0.81[AMR][1000 genomes]
rs34882116	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777981	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs3798390	0.85[EUR][1000 genomes]
rs3798393	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs3798394	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs4945584	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4945586	0.86[CHB][hapmap]
rs4946254	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4946256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946258	0.82[CHB][hapmap]
rs4946260	0.85[CHB][hapmap];0.80[AMR][1000 genomes]
rs6911915	0.85[CHB][hapmap]
rs6937083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6940922	0.82[AMR][1000 genomes]
rs6941337	0.90[ASN][1000 genomes]
rs765516	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7770923	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7771211	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7771271	0.85[EUR][1000 genomes]
rs7771637	0.85[EUR][1000 genomes]
rs7772046	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7776244	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs929057	0.86[CHB][hapmap]
rs929058	0.82[CHB][hapmap]
rs9320604	0.85[CHB][hapmap];0.80[AMR][1000 genomes]
rs9372480	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9374658	0.83[JPT][hapmap]
rs9374662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374663	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9385012	0.85[EUR][1000 genomes]
rs9385013	0.84[EUR][1000 genomes]
rs9387478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9387479	0.82[AMR][1000 genomes]
rs9401006	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs9401007	0.85[EUR][1000 genomes]
rs9481728	0.86[CHB][hapmap];0.80[AMR][1000 genomes]
rs9489150	0.81[EUR][1000 genomes]
rs9489152	0.89[CEU][hapmap]
rs9489213	0.80[AMR][1000 genomes]
rs9688361	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3386499	chr6:117779859-117781657	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2180811	DCBLD1	cis	Adipose Subcutaneous	GTEx
rs2180811	DCBLD1	cis	Thyroid	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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