Variant report

Variant	rs62433102
Chromosome Location	chr6:117802733-117802734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:117802498-117802840	HepG2	liver:	n/a	n/a
2	MBD4	chr6:117802356-117803124	HepG2	liver:	n/a	n/a
3	ZEB1	chr6:117802335-117803996	HepG2	liver:	n/a	n/a
4	SPI1	chr6:117802549-117802770	GM12891	blood:	n/a	chr6:117802623-117802630 chr6:117802713-117802720
5	SP1	chr6:117802321-117802895	HepG2	liver:	n/a	chr6:117802628-117802642
6	POLR2A	chr6:117802510-117802911	HepG2	liver:	n/a	n/a
7	MYBL2	chr6:117802336-117804909	HepG2	liver:	n/a	n/a
8	UBTF	chr6:117802514-117802932	K562	blood:	n/a	n/a
9	EP300	chr6:117802617-117802943	K562	blood:	n/a	n/a
10	HNF4A	chr6:117802442-117802798	HepG2	liver:	n/a	chr6:117802573-117802588
11	RAD21	chr6:117802509-117802805	HepG2	liver:	n/a	n/a
12	E2F4	chr6:117802715-117802915	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F6	chr6:117802498-117804805	K562	blood:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117804518-117804529 chr6:117803839-117803849
14	E2F6	chr6:117802519-117802779	K562	blood:	n/a	n/a
15	EP300	chr6:117802258-117802872	HepG2	liver:	n/a	chr6:117802524-117802538 chr6:117802518-117802532 chr6:117802504-117802514
16	RFX5	chr6:117802597-117802758	HepG2	liver:	n/a	n/a
17	NFYB	chr6:117802582-117802782	GM12878	blood:	n/a	n/a
18	ZBTB7A	chr6:117802466-117802744	HepG2	liver:	n/a	n/a
19	FOXA2	chr6:117802345-117802803	HepG2	liver:	n/a	n/a
20	MAX	chr6:117802511-117803724	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr6:117802541-117803080	HepG2	liver:	n/a	n/a
22	MAX	chr6:117802500-117803105	HepG2	liver:	n/a	n/a
23	MAX	chr6:117802533-117802752	K562	blood:	n/a	n/a
24	MAX	chr6:117802505-117802820	K562	blood:	n/a	n/a
25	ELF1	chr6:117802531-117802796	GM12878	blood:	n/a	n/a
26	MAZ	chr6:117802540-117804952	K562	blood:	n/a	n/a
27	MXI1	chr6:117802473-117805177	HepG2	liver:	n/a	n/a
28	ELF1	chr6:117802434-117802808	HepG2	liver:	n/a	chr6:117802529-117802540
29	MYC	chr6:117802686-117805224	K562	blood:	n/a	n/a
30	FOXA2	chr6:117802063-117802799	HepG2	liver:	n/a	n/a
31	BHLHE40	chr6:117802467-117803168	HepG2	liver:	n/a	n/a
32	E2F6	chr6:117802470-117802795	H1-hESC	embryonic stem cell:	n/a	n/a
33	HNF4G	chr6:117802360-117802851	HepG2	liver:	n/a	n/a
34	E2F6	chr6:117802405-117804887	H1-hESC	embryonic stem cell:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117804518-117804529 chr6:117803839-117803849
35	HEY1	chr6:117802398-117802899	HepG2	liver:	n/a	n/a
36	HEY1	chr6:117802535-117804976	HepG2	liver:	n/a	chr6:117803658-117803673
37	FOXA1	chr6:117802201-117802851	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:117802530-117804840	HepG2	liver:	n/a	n/a
39	TBL1XR1	chr6:117802581-117802852	K562	blood:	n/a	n/a
40	MAX	chr6:117802516-117802926	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr6:117802338-117805250	HepG2	liver:	n/a	n/a
42	CREB1	chr6:117802394-117804854	HepG2	liver:	n/a	n/a
43	MYC	chr6:117802544-117805091	K562	blood:	n/a	n/a
44	BHLHE40	chr6:117802610-117802822	K562	blood:	n/a	n/a
45	EP300	chr6:117802349-117802809	HepG2	liver:	n/a	chr6:117802524-117802538 chr6:117802518-117802532 chr6:117802504-117802514
46	CBX3	chr6:117802488-117802810	K562	blood:	n/a	n/a
47	TBP	chr6:117802535-117802904	HepG2	liver:	n/a	n/a
48	HCFC1	chr6:117802505-117802751	K562	blood:	n/a	n/a
49	MYC	chr6:117802509-117802837	K562	blood:	n/a	n/a
50	SPI1	chr6:117802618-117802778	K562	blood:	n/a	chr6:117802623-117802630 chr6:117802713-117802720

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:117802725-117802775	T-47D	breast:	n/a
2	chr6:117802725-117802775	Jurkat	blood:	n/a
3	chr6:117802710-117802760	K562	blood:	n/a
4	chr6:117802725-117802775	SK-N-MC	brain:	n/a
5	chr6:117802710-117802760	HAEpiC	amniotic membrane:	n/a
6	chr6:117802710-117802760	RPTEC	kidney:	n/a
7	chr6:117802725-117802775	MCF-7	breast:	n/a
8	chr6:117802710-117802760	NHBE	bronchial:	n/a
9	chr6:117802725-117802775	NB4	blood:	n/a
10	chr6:117802710-117802760	HMEC	breast:	n/a
11	chr6:117802725-117802775	NHBE	bronchial:	n/a
12	chr6:117802710-117802760	PANC-1	pancreas:	n/a
13	chr6:117802725-117802775	SAEC	small airway:	n/a
14	chr6:117802725-117802775	U87	brain:	n/a
15	chr6:117802710-117802760	ECC-1	luminal epithelium:	n/a
16	chr6:117802710-117802760	IMR90	lung:	fetal
17	chr6:117802725-117802775	K562	blood:	n/a
18	chr6:117802725-117802775	GM19239	blood:	n/a
19	chr6:117802710-117802760	MCF-7	breast:	n/a
20	chr6:117802710-117802760	AG04450	lung:	fetal
21	chr6:117802710-117802760	GM19239	blood:	n/a
22	chr6:117802710-117802760	PrEC	prostate:	n/a
23	chr6:117802725-117802775	GM12892	blood:	n/a
24	chr6:117802710-117802760	GM12892	blood:	n/a
25	chr6:117802710-117802760	U87	brain:	n/a
26	chr6:117802725-117802775	RPTEC	kidney:	n/a
27	chr6:117802710-117802760	Hepatocyte	liver:	n/a
28	chr6:117802725-117802775	HL-60	blood:	n/a
29	chr6:117802710-117802760	HRPEpiC	eye:	n/a
30	chr6:117802725-117802775	BE2_C	brain:	n/a
31	chr6:117802710-117802760	BJ	skin:	n/a
32	chr6:117802725-117802775	GM06990	blood:	n/a
33	chr6:117802725-117802775	AoSMC	blood vessel:	n/a
34	chr6:117802725-117802775	AG10803	skin:	n/a
35	chr6:117802710-117802760	T-47D	breast:	n/a
36	chr6:117802725-117802775	HEK293	kidney:	embryo
37	chr6:117802725-117802775	ECC-1	luminal epithelium:	n/a
38	chr6:117802710-117802760	HUVEC	blood vessel:	n/a
39	chr6:117802710-117802760	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:117802725-117802775	AG04449	skin:	fetal
41	chr6:117802725-117802775	GM12878	blood:	n/a
42	chr6:117802725-117802775	ovcar-3	ovarian:	n/a
43	chr6:117802725-117802775	Caco-2	colon:	n/a
44	chr6:117802710-117802760	HEEpiC	esophagus:	n/a
45	chr6:117802725-117802775	HCM	heart:	n/a
46	chr6:117802725-117802775	HepG2	liver:	n/a
47	chr6:117802710-117802760	A549	lung:	n/a
48	chr6:117802725-117802775	HUVEC	blood vessel:	n/a
49	chr6:117802725-117802775	NT2-D1	testis:	n/a
50	chr6:117802725-117802775	IMR90	lung:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:117802655..117804398-chr6:117864844..117866459,3	MCF-7	breast:
2	chr6:117802549..117804711-chr6:117824121..117828201,5	K562	blood:
3	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
4	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:
5	chr6:117802223..117804604-chr6:117922456..117924196,2	MCF-7	breast:

No data

Variant related genes	Relation type
DCBLD1	TF binding region
DCBLD1	CpG island
ENSG00000112249	Chromatin interaction
ENSG00000047932	Chromatin interaction
ENSG00000164465	Chromatin interaction
ENSG00000260000	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

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	0.80[ASN][1000 genomes]
rs13193572	0.85[ASN][1000 genomes]
rs13195478	0.85[ASN][1000 genomes]
rs13195673	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	0.93[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	0.85[ASN][1000 genomes]
rs13210963	0.85[ASN][1000 genomes]
rs13211956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1407181	0.86[ASN][1000 genomes]
rs1407182	0.87[ASN][1000 genomes]
rs17079281	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	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018055	0.85[ASN][1000 genomes]
rs2104064	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
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]
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	0.93[EUR][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	0.86[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	0.93[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	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	0.83[ASN][1000 genomes]
rs7763979	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	0.84[EUR][1000 genomes]
rs9481719	0.80[ASN][1000 genomes]
rs9489199	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
rs62433102	DCBLD1	cis	Thyroid	GTEx
rs62433102	DCBLD1	cis	Whole Blood	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117799800-117803000	Weak transcription	Ovary	ovary
2	chr6:117800000-117803200	Weak transcription	HSMM	muscle
3	chr6:117800200-117803000	Weak transcription	NHDF-Ad	bronchial
4	chr6:117800200-117803200	Weak transcription	HSMMtube	muscle
5	chr6:117800200-117803400	Weak transcription	Small Intestine	intestine
6	chr6:117801400-117802800	Weak transcription	Liver	Liver
7	chr6:117801800-117802800	Enhancers	A549	lung
8	chr6:117802000-117802800	Enhancers	Fetal Intestine Small	intestine
9	chr6:117802200-117803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:117802200-117803200	Enhancers	NHEK	skin
11	chr6:117802400-117802800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr6:117802400-117802800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:117802400-117802800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:117802400-117803000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:117802400-117803000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr6:117802400-117803000	Enhancers	Stomach Mucosa	stomach
17	chr6:117802400-117803600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:117802400-117803800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:117802400-117806400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:117802600-117802800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:117802600-117802800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:117802600-117802800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr6:117802600-117802800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
24	chr6:117802600-117802800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr6:117802600-117802800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr6:117802600-117802800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:117802600-117802800	Enhancers	Brain Anterior Caudate	brain
28	chr6:117802600-117802800	Enhancers	Brain Cingulate Gyrus	brain
29	chr6:117802600-117802800	Active TSS	Colonic Mucosa	Colon
30	chr6:117802600-117802800	Active TSS	Duodenum Mucosa	Duodenum
31	chr6:117802600-117802800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr6:117802600-117802800	Active TSS	Fetal Intestine Large	intestine
33	chr6:117802600-117802800	Bivalent Enhancer	Fetal Lung	lung
34	chr6:117802600-117802800	Enhancers	Gastric	stomach
35	chr6:117802600-117802800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr6:117802600-117802800	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr6:117802600-117802800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:117802600-117802800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:117802600-117802800	Active TSS	Stomach Smooth Muscle	stomach
40	chr6:117802600-117802800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr6:117802600-117803000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:117802600-117803000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr6:117802600-117803000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr6:117802600-117803000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:117802600-117803000	Bivalent Enhancer	Fetal Brain Male	brain
49	chr6:117802600-117803000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr6:117802600-117803200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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