Variant report

Variant	rs62433108
Chromosome Location	chr6:117804797-117804798
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117804247..117806025-chr6:117859893..117862301,2	MCF-7	breast:
2	chr6:117803575..117805462-chr6:117921337..117926516,4	K562	blood:
3	chr6:117803211..117805462-chr6:117921337..117926538,8	K562	blood:
4	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:
5	chr21:36260495..36261026-chr6:117803965..117804818,2	Hela-S3	cervix:
6	chr6:117803267..117806417-chr6:117823935..117828011,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159216	Chromatin interaction
ENSG00000047932	Chromatin interaction
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12528785	0.90[EUR][1000 genomes]
rs13192067	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13192130	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13193572	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13195478	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13195673	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13196791	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13198016	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13198224	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13202267	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13202333	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13202514	0.87[ASN][1000 genomes]
rs13205723	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13205753	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13205986	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13206063	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13206490	0.86[ASN][1000 genomes]
rs13207962	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13210963	0.86[ASN][1000 genomes]
rs13211956	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13212002	0.84[ASN][1000 genomes]
rs13216575	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13217856	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13218378	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407181	0.84[ASN][1000 genomes]
rs1407182	0.85[ASN][1000 genomes]
rs17079281	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1853146	0.84[ASN][1000 genomes]
rs1853147	0.83[ASN][1000 genomes]
rs1885064	0.83[ASN][1000 genomes]
rs2018055	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2104064	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34059490	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34331459	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34431655	0.89[EUR][1000 genomes]
rs35002781	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35599105	0.85[ASN][1000 genomes]
rs36045731	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4357172	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4632931	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946258	0.91[EUR][1000 genomes]
rs62433102	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6568976	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6568977	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6568978	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6568979	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6914910	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6930292	0.84[ASN][1000 genomes]
rs6936540	0.83[ASN][1000 genomes]
rs6940327	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942067	0.84[ASN][1000 genomes]
rs717969	0.84[ASN][1000 genomes]
rs717970	0.84[ASN][1000 genomes]
rs722359	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7745840	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7746536	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7756187	0.81[ASN][1000 genomes]
rs7763979	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7764024	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929058	0.81[EUR][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	esv3434198	chr6:117802809-117805457	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62433108	DCBLD1	cis	Whole Blood	GTEx
rs62433108	DCBLD1	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117802400-117806400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:117802600-117804800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr6:117802600-117805000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr6:117802800-117804800	Active TSS	Brain Hippocampus Middle	brain
5	chr6:117802800-117804800	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr6:117802800-117805000	Active TSS	Gastric	stomach
7	chr6:117802800-117805200	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:117802800-117805600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:117803000-117805000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:117803000-117805000	Active TSS	Brain Substantia Nigra	brain
11	chr6:117803000-117805600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:117803200-117804800	Active TSS	Colon Smooth Muscle	Colon
13	chr6:117803200-117805000	Active TSS	Brain Cingulate Gyrus	brain
14	chr6:117803200-117805200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:117803200-117805200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:117803200-117805200	Active TSS	Fetal Intestine Large	intestine
17	chr6:117803200-117805600	Active TSS	Psoas Muscle	Psoas
18	chr6:117803200-117805600	Active TSS	NHDF-Ad	bronchial
19	chr6:117803200-117806000	Active TSS	NHLF	lung
20	chr6:117803200-117806200	Active TSS	HSMMtube	muscle
21	chr6:117803400-117804800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:117803400-117804800	Active TSS	Brain Angular Gyrus	brain
23	chr6:117803400-117805000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:117803400-117805000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:117803400-117805000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr6:117803400-117805000	Active TSS	Fetal Kidney	kidney
27	chr6:117803400-117805200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:117803400-117805200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:117803400-117805200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:117803400-117805200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:117803400-117805200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:117803400-117805200	Active TSS	Esophagus	oesophagus
33	chr6:117803400-117805200	Active TSS	Lung	lung
34	chr6:117803400-117805200	Active TSS	Ovary	ovary
35	chr6:117803400-117805200	Active TSS	Placenta Amnion	Placenta Amnion
36	chr6:117803400-117805200	Active TSS	Small Intestine	intestine
37	chr6:117803400-117805200	Active TSS	NHEK	skin
38	chr6:117803400-117805400	Active TSS	Aorta	Aorta
39	chr6:117803400-117805400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:117803400-117805600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:117803400-117805600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:117803400-117805800	Active TSS	Hela-S3	cervix
43	chr6:117803400-117805800	Active TSS	HSMM	muscle
44	chr6:117803400-117806400	Active TSS	A549	lung
45	chr6:117803600-117804800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:117803600-117804800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:117803600-117804800	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr6:117803600-117804800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:117803600-117804800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr6:117803600-117804800	Active TSS	Rectal Mucosa Donor 31	rectum

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