Variant report

Variant	rs17692055
Chromosome Location	chr6:73336125-73336126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr6:73335796-73336150	GM12878	blood:	n/a	n/a
2	CHD2	chr6:73335813-73336432	GM12878	blood:	n/a	n/a
3	BATF	chr6:73335798-73336268	GM12878	blood:	n/a	n/a
4	TCF12	chr6:73335906-73336162	GM12878	blood:	n/a	n/a
5	RAD21	chr6:73335760-73336126	GM12878	blood:	n/a	n/a
6	FOXM1	chr6:73335733-73336232	GM12878	blood:	n/a	n/a
7	SPI1	chr6:73335755-73336202	GM12891	blood:	n/a	n/a
8	EBF1	chr6:73335822-73336325	GM12878	blood:	n/a	n/a
9	TCF12	chr6:73335882-73336173	GM12878	blood:	n/a	n/a
10	SPI1	chr6:73335826-73336245	GM12891	blood:	n/a	n/a
11	TBL1XR1	chr6:73335631-73336384	GM12878	blood:	n/a	n/a
12	MEF2A	chr6:73335676-73336249	GM12878	blood:	n/a	n/a
13	SPI1	chr6:73335810-73336162	HL-60	blood:	n/a	n/a
14	REST	chr6:73335911-73336153	Hela-S3	cervix:	n/a	n/a
15	EP300	chr6:73335827-73336449	GM12878	blood:	n/a	n/a
16	BATF	chr6:73335777-73336275	GM12878	blood:	n/a	n/a
17	STAT3	chr6:73335516-73336245	GM12878	blood:	n/a	n/a
18	CUX1	chr6:73335788-73336250	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:73335643-73336293	GM12878	blood:	n/a	n/a
20	CHD1	chr6:73335631-73336745	GM12878	blood:	n/a	n/a
21	RUNX3	chr6:73335719-73336397	GM12878	blood:	n/a	n/a
22	WRNIP1	chr6:73335799-73336306	GM12878	blood:	n/a	n/a
23	ATF2	chr6:73335701-73336331	GM12878	blood:	n/a	n/a
24	TCF3	chr6:73335935-73336145	GM12878	blood:	n/a	n/a
25	SPI1	chr6:73335634-73336434	GM12878	blood:	n/a	n/a
26	BCLAF1	chr6:73335590-73336255	GM12878	blood:	n/a	n/a
27	BCLAF1	chr6:73335715-73336222	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:73335677-73336244	GM12878	blood:	n/a	n/a
29	BHLHE40	chr6:73335777-73336374	GM12878	blood:	n/a	n/a
30	E2F4	chr6:73336045-73336238	MCF10A-Er-Src	breast:	n/a	n/a
31	BCL11A	chr6:73335770-73336233	GM12878	blood:	n/a	n/a
32	STAT5A	chr6:73335696-73336306	GM12878	blood:	n/a	n/a
33	YY1	chr6:73335831-73336199	GM12878	blood:	n/a	n/a
34	ATF2	chr6:73335727-73336283	GM12878	blood:	n/a	n/a
35	EBF1	chr6:73335805-73336163	GM12878	blood:	n/a	n/a
36	MAX	chr6:73335788-73336220	GM12878	blood:	n/a	n/a
37	IRF4	chr6:73335700-73336233	GM12878	blood:	n/a	n/a
38	MXI1	chr6:73335717-73336550	GM12878	blood:	n/a	n/a
39	EP300	chr6:73335769-73336366	GM12878	blood:	n/a	n/a
40	RCOR1	chr6:73335722-73336262	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:73336100-73336125	GM12878	blood:	n/a	n/a
42	MTA3	chr6:73335691-73336344	GM12878	blood:	n/a	n/a
43	SPI1	chr6:73335730-73336239	HL-60	blood:	n/a	n/a
44	TBP	chr6:73335791-73336422	GM12878	blood:	n/a	n/a
45	SPI1	chr6:73335869-73336142	GM12878	blood:	n/a	n/a
46	NFIC	chr6:73335673-73336373	GM12878	blood:	n/a	n/a
47	IRF4	chr6:73335689-73336269	GM12878	blood:	n/a	n/a
48	EP300	chr6:73335695-73336485	GM12878	blood:	n/a	n/a
49	EBF1	chr6:73335808-73336267	GM12878	blood:	n/a	n/a
50	NFIC	chr6:73335718-73336385	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:73331830..73337292-chr6:73338860..73341706,8	K562	blood:
2	chr6:73334481..73336205-chr6:73704822..73706981,2	K562	blood:
3	chr6:73270540..73272055-chr6:73334737..73337247,2	K562	blood:
4	chr6:73334237..73336368-chr6:73349929..73351569,2	K562	blood:

No data

Variant related genes	Relation type
KCNQ5-IT1	TF binding region
ENSG00000233844	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16882712	0.89[EUR][1000 genomes]
rs17692606	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17748888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17748966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55791694	0.89[EUR][1000 genomes]
rs56897294	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57822223	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58599475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58816739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60412240	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60620751	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62411982	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6453597	0.89[EUR][1000 genomes]
rs6918661	0.86[EUR][1000 genomes]
rs6938189	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73531872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73533641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73533649	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73533670	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73533685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73535764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73535765	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73535768	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73535770	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73535771	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73537767	0.89[EUR][1000 genomes]
rs73537781	0.89[EUR][1000 genomes]
rs73756018	0.89[EUR][1000 genomes]
rs7758797	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73333400-73336200	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:73333800-73350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:73334200-73337200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:73334400-73336200	Enhancers	Primary B cells from cord blood	blood
5	chr6:73334400-73336800	Enhancers	K562	blood
6	chr6:73334400-73337200	Weak transcription	NHEK	skin
7	chr6:73334400-73346400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:73334400-73358800	Weak transcription	HSMM	muscle
9	chr6:73334600-73336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:73334600-73356200	Weak transcription	HMEC	breast
11	chr6:73335000-73336400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:73335000-73336800	Flanking Active TSS	GM12878-XiMat	blood
13	chr6:73335200-73339400	Weak transcription	Fetal Brain Female	brain
14	chr6:73335600-73336400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:73335800-73336200	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:73335800-73342800	Weak transcription	Primary T cells from cord blood	blood
17	chr6:73336000-73337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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