Variant report

Variant	rs7746536
Chromosome Location	chr6:117799572-117799573
allele	A/C
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	CTCF	chr6:117799490-117800082	HCT-116	colon:	n/a	n/a
2	RAD21	chr6:117799348-117800128	HepG2	liver:	n/a	n/a
3	JUND	chr6:117799570-117799950	HepG2	liver:	n/a	n/a
4	TEAD4	chr6:117799456-117800260	HepG2	liver:	n/a	n/a
5	RAD21	chr6:117799537-117799958	GM12878	blood:	n/a	n/a
6	NFIC	chr6:117799490-117800116	HepG2	liver:	n/a	n/a
7	NR2F2	chr6:117799484-117800017	K562	blood:	n/a	n/a
8	RXRA	chr6:117799516-117800105	HepG2	liver:	n/a	chr6:117799713-117799722
9	MYBL2	chr6:117799370-117800239	HepG2	liver:	n/a	n/a
10	SMC3	chr6:117799562-117799940	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr6:117799167-117799655	GM12878	blood:	n/a	n/a
12	CTCF	chr6:117799488-117800171	A549	lung:	n/a	n/a
13	CTCF	chr6:117799510-117800018	HCT-116	colon:	n/a	n/a
14	MYBL2	chr6:117799304-117800281	HepG2	liver:	n/a	n/a
15	HNF4A	chr6:117799528-117800261	HepG2	liver:	n/a	chr6:117799712-117799727 chr6:117799713-117799725 chr6:117799713-117799727
16	RUNX3	chr6:117799532-117799934	GM12878	blood:	n/a	n/a
17	CTCF	chr6:117799514-117799937	A549	lung:	n/a	n/a
18	CTCF	chr6:117799567-117799970	MCF-7	breast:	n/a	n/a
19	MBD4	chr6:117799475-117800232	HepG2	liver:	n/a	n/a
20	CTCF	chr6:117799530-117799889	MCF-7	breast:	n/a	n/a
21	ZNF143	chr6:117799564-117799929	GM12878	blood:	n/a	n/a
22	NR2F2	chr6:117799558-117799877	K562	blood:	n/a	n/a
23	RAD21	chr6:117799513-117800129	HepG2	liver:	n/a	n/a
24	HNF4A	chr6:117799407-117800069	HepG2	liver:	n/a	chr6:117799712-117799727 chr6:117799713-117799725 chr6:117799713-117799727
25	RAD21	chr6:117799494-117800091	A549	lung:	n/a	n/a
26	NR2F2	chr6:117799464-117800010	MCF-7	breast:	n/a	n/a
27	EP300	chr6:117799467-117800104	HepG2	liver:	n/a	n/a
28	SMC3	chr6:117799394-117799983	GM12878	blood:	n/a	n/a
29	RAD21	chr6:117799443-117800115	HepG2	liver:	n/a	n/a
30	HNF4G	chr6:117799303-117800126	HepG2	liver:	n/a	chr6:117799713-117799725 chr6:117799713-117799727
31	FOXA1	chr6:117799438-117800068	HepG2	liver:	n/a	n/a
32	EBF1	chr6:117799516-117799876	GM12878	blood:	n/a	chr6:117799799-117799810
33	RAD21	chr6:117799463-117800017	HCT-116	colon:	n/a	n/a
34	RAD21	chr6:117799508-117800123	HCT-116	colon:	n/a	n/a
35	MBD4	chr6:117799261-117800248	HepG2	liver:	n/a	n/a
36	CTCF	chr6:117799537-117799977	K562	blood:	n/a	n/a
37	CEBPB	chr6:117799520-117800161	HepG2	liver:	n/a	n/a
38	SMC3	chr6:117799543-117799894	K562	blood:	n/a	n/a
39	HNF4G	chr6:117799484-117800186	HepG2	liver:	n/a	chr6:117799713-117799725 chr6:117799713-117799727
40	CTCF	chr6:117799560-117799710	HAc	cerebellar:	n/a	n/a
41	CTCF	chr6:117799499-117800011	HepG2	liver:	n/a	n/a
42	HDAC2	chr6:117799514-117800274	HepG2	liver:	n/a	n/a
43	SMC3	chr6:117799480-117800149	HepG2	liver:	n/a	n/a
44	FOXA2	chr6:117799526-117800147	HepG2	liver:	n/a	n/a
45	EP300	chr6:117799563-117800006	HepG2	liver:	n/a	n/a
46	FOXA1	chr6:117799464-117800045	HepG2	liver:	n/a	n/a
47	RAD21	chr6:117799515-117800085	MCF-7	breast:	n/a	n/a
48	NFIC	chr6:117799357-117800144	HepG2	liver:	n/a	n/a
49	NR2F2	chr6:117799491-117799940	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:117799542-117799974	GM12878	blood:	n/a	n/a

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	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:
5	chr6:117797897..117799784-chr6:117801599..117803963,2	K562	blood:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000047932	Chromatin interaction
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs12528785	0.92[EUR][1000 genomes]
rs13192067	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13192130	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13192511	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs13193572	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs13195478	0.84[ASW][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs13195673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196791	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13202267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13202333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13202514	0.89[ASN][1000 genomes]
rs13205723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205753	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13205986	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206063	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13206490	0.85[ASN][1000 genomes]
rs13207962	0.89[JPT][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs13210963	0.81[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs13211956	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]
rs13212002	0.86[ASN][1000 genomes]
rs13216575	0.84[ASN][1000 genomes]
rs13217856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13218378	0.83[CHB][hapmap];0.94[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	0.84[ASW][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][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	0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018055	0.85[ASN][1000 genomes]
rs2104064	0.84[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273601	0.84[JPT][hapmap]
rs34059490	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34331459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34431655	0.91[EUR][1000 genomes]
rs35002781	0.81[AFR][1000 genomes];0.98[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	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777980	0.84[JPT][hapmap]
rs3777982	0.84[JPT][hapmap]
rs4357172	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946258	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs62433102	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62433108	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6568976	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6568977	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568979	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910338	0.80[ASN][1000 genomes]
rs6914910	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6930292	0.95[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6936540	0.86[ASN][1000 genomes]
rs6940327	0.98[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];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739294	0.80[ASN][1000 genomes]
rs7745840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749229	0.80[ASN][1000 genomes]
rs7756187	0.84[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7763979	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929058	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs9481719	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs9489152	0.85[JPT][hapmap]
rs9489193	0.89[JPT][hapmap]
rs9489199	0.87[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7746536	GOPC	cis	parietal	SCAN
rs7746536	FRK	cis	cerebellum	SCAN
rs7746536	DCBLD1	cis	Whole Blood	GTEx
rs7746536	DCBLD1	cis	Thyroid	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117797200-117800600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:117798200-117800200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:117798200-117800200	Enhancers	Fetal Intestine Large	intestine
4	chr6:117798400-117800000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:117798600-117799600	Weak transcription	Small Intestine	intestine
6	chr6:117798600-117800200	Enhancers	A549	lung
7	chr6:117798600-117802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:117798800-117799600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:117798800-117800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:117798800-117801400	Enhancers	Liver	Liver
11	chr6:117799000-117800000	Enhancers	Fetal Intestine Small	intestine
12	chr6:117799200-117800200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:117799200-117800200	Flanking Active TSS	HepG2	liver
14	chr6:117799400-117799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:117799400-117799800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:117799400-117799800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr6:117799400-117799800	Flanking Active TSS	GM12878-XiMat	blood
18	chr6:117799400-117800000	Enhancers	Stomach Mucosa	stomach
19	chr6:117799400-117800000	Enhancers	HSMM	muscle
20	chr6:117799400-117800200	Enhancers	Duodenum Mucosa	Duodenum

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