Variant report

Variant	rs4713491
Chromosome Location	chr6:11415271-11415272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr6:11414713-11415424	HCT-116	colon:	n/a	n/a
2	CBX3	chr6:11414677-11415325	HCT-116	colon:	n/a	n/a
3	SRF	chr6:11414697-11415338	MCF-7	breast:	n/a	n/a
4	GATA3	chr6:11414711-11415298	T-47D	breast:	n/a	n/a
5	POLR2A	chr6:11413990-11415487	MCF10A-Er-Src	breast:	n/a	n/a
6	CREB1	chr6:11414799-11415346	HepG2	liver:	n/a	n/a
7	FOXA2	chr6:11414815-11415389	A549	lung:	n/a	n/a
8	FOXA1	chr6:11414732-11415443	HepG2	liver:	n/a	n/a
9	FOXM1	chr6:11414611-11415460	ECC-1	luminal epithelium:	n/a	n/a
10	SP1	chr6:11414794-11415359	A549	lung:	n/a	n/a
11	EP300	chr6:11414727-11415300	HepG2	liver:	n/a	n/a
12	EP300	chr6:11414773-11415291	A549	lung:	n/a	n/a
13	SP1	chr6:11414700-11415391	A549	lung:	n/a	n/a
14	SRF	chr6:11414761-11415375	HCT-116	colon:	n/a	n/a
15	TCF12	chr6:11414789-11415386	A549	lung:	n/a	n/a
16	MYBL2	chr6:11414635-11415360	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:11414693-11415292	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA1	chr6:11414766-11415318	HepG2	liver:	n/a	n/a
19	EP300	chr6:11414848-11415315	T-47D	breast:	n/a	n/a
20	CREB1	chr6:11414786-11415323	HepG2	liver:	n/a	n/a
21	TEAD4	chr6:11414787-11415406	HepG2	liver:	n/a	n/a
22	FOXA1	chr6:11414846-11415306	HepG2	liver:	n/a	n/a
23	CREB1	chr6:11414799-11415271	GM12878	blood:	n/a	n/a
24	FOXA1	chr6:11414891-11415329	T-47D	breast:	n/a	n/a
25	EP300	chr6:11414736-11415408	A549	lung:	n/a	n/a
26	FOXA2	chr6:11414861-11415316	HepG2	liver:	n/a	n/a
27	SRF	chr6:11414783-11415272	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11228618..11230806-chr6:11414420..11416664,2	MCF-7	breast:
2	chr6:11229922..11234167-chr6:11411662..11415515,7	MCF-7	breast:
3	chr6:11387321..11394874-chr6:11409302..11416244,8	MCF-7	breast:
4	chr6:11413490..11417171-chr6:11433636..11437714,3	MCF-7	breast:
5	chr6:11415142..11417104-chr6:11428067..11431006,2	MCF-7	breast:
6	chr6:11394123..11395903-chr6:11413687..11415867,2	MCF-7	breast:
7	chr6:11388874..11392122-chr6:11413409..11415866,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233656	TF binding region
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs4330532	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4368806	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4370358	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4713493	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713494	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457458	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6901388	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6904848	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6908442	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6919269	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6931599	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7740314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751151	0.89[CEU][hapmap];0.88[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7752735	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7762454	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7766220	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8180674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366788	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9380270	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380276	0.82[GIH][hapmap]

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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713491	C6orf218	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11405400-11419400	Weak transcription	Aorta	Aorta
2	chr6:11411200-11415600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:11411600-11417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:11412200-11415400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr6:11412400-11415400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:11412400-11416400	Weak transcription	Fetal Kidney	kidney
7	chr6:11412600-11416000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:11412600-11416200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:11412600-11416400	Weak transcription	NH-A	brain
10	chr6:11412600-11425600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:11412600-11425600	Weak transcription	NHLF	lung
12	chr6:11412800-11416400	Weak transcription	HSMM	muscle
13	chr6:11413400-11415600	Enhancers	Hela-S3	cervix
14	chr6:11413600-11415600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:11413600-11416800	Enhancers	NHEK	skin
16	chr6:11413800-11415800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr6:11413800-11416600	Enhancers	HepG2	liver
18	chr6:11414600-11415400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:11414600-11415400	Flanking Active TSS	A549	lung
20	chr6:11414800-11415400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:11414800-11415400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:11414800-11415400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:11414800-11415400	ZNF genes & repeats	GM12878-XiMat	blood
24	chr6:11414800-11415600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:11415000-11415400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:11415000-11415400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:11415000-11415400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:11415000-11415400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr6:11415000-11415400	Active TSS	HMEC	breast
30	chr6:11415000-11425800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:11415200-11415400	Weak transcription	NHDF-Ad	bronchial
32	chr6:11415200-11418200	Weak transcription	HUVEC	blood vessel
33	chr6:11415200-11418800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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