Variant report

Variant	rs13211956
Chromosome Location	chr6:117801732-117801733
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:117801680-117801939	HepG2	liver:	n/a	chr6:117801790-117801801

No.	Distal block	Cell Line	Cell type
1	chr6:117799806..117802489-chr6:117925663..117927637,2	MCF-7	breast:
2	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
3	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000260000	Chromatin interaction
ENSG00000112249	Chromatin interaction
ENSG00000047932	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12528785	0.92[EUR][1000 genomes]
rs13192067	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13192130	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13192511	0.83[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs13193572	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs13195478	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13195673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196791	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198016	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198224	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13202267	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13202333	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13202514	0.89[ASN][1000 genomes]
rs13205723	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205753	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13205986	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206063	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13206490	0.85[ASN][1000 genomes]
rs13207962	0.86[JPT][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs13210963	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13212002	0.86[ASN][1000 genomes]
rs13216575	0.84[ASN][1000 genomes]
rs13217856	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13218378	0.88[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1407181	0.86[ASN][1000 genomes]
rs1407182	0.87[ASN][1000 genomes]
rs17079281	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1853146	0.86[ASN][1000 genomes]
rs1853147	0.85[ASN][1000 genomes]
rs1885064	0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018055	0.85[ASN][1000 genomes]
rs2104064	0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273601	0.86[JPT][hapmap]
rs34059490	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34331459	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34431655	0.91[EUR][1000 genomes]
rs35002781	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35599105	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36045731	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777980	0.86[JPT][hapmap]
rs3777982	0.86[JPT][hapmap]
rs4357172	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632931	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946258	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs62433102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62433108	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6568976	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6568977	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568978	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568979	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910338	0.80[ASN][1000 genomes]
rs6914910	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6930292	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6936540	0.86[ASN][1000 genomes]
rs6940327	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6941824	0.80[ASN][1000 genomes]
rs6942067	0.86[ASN][1000 genomes]
rs717969	0.86[ASN][1000 genomes]
rs717970	0.86[ASN][1000 genomes]
rs722359	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739294	0.80[ASN][1000 genomes]
rs7745840	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749229	0.80[ASN][1000 genomes]
rs7756187	0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs7763979	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764024	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929058	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs9481719	0.83[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs9489152	0.87[JPT][hapmap]
rs9489193	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs9489199	0.92[JPT][hapmap];0.80[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
rs13211956	DCBLD1	cis	Thyroid	GTEx
rs13211956	DCBLD1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117798600-117802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:117799800-117803000	Weak transcription	Ovary	ovary
3	chr6:117800000-117802000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:117800000-117802400	Weak transcription	Stomach Mucosa	stomach
5	chr6:117800000-117802600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:117800000-117802600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:117800000-117803200	Weak transcription	HSMM	muscle
8	chr6:117800200-117801800	Weak transcription	A549	lung
9	chr6:117800200-117801800	Enhancers	HepG2	liver
10	chr6:117800200-117802000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:117800200-117802600	Weak transcription	Brain Anterior Caudate	brain
12	chr6:117800200-117802600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:117800200-117802600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:117800200-117802600	Weak transcription	Fetal Intestine Large	intestine
15	chr6:117800200-117803000	Weak transcription	NHDF-Ad	bronchial
16	chr6:117800200-117803200	Weak transcription	HSMMtube	muscle
17	chr6:117800200-117803400	Weak transcription	Small Intestine	intestine
18	chr6:117800400-117802600	Weak transcription	GM12878-XiMat	blood
19	chr6:117801400-117802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:117801400-117802800	Weak transcription	Liver	Liver
21	chr6:117801600-117802200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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