Variant report

Variant	rs4472946
Chromosome Location	chr11:63689124-63689125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:63689060-63689210	GM12864	blood:	n/a	n/a
2	YY1	chr11:63688458-63689130	H1-hESC	embryonic stem cell:	n/a	n/a
3	RFX5	chr11:63688600-63689125	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:63689060-63689210	HCM	heart:	n/a	n/a
5	CTCF	chr11:63688980-63689130	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr11:63689040-63689190	GM12870	blood:	n/a	n/a
7	CTBP2	chr11:63684917-63689153	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:63684972-63689200	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF263	chr11:63688788-63689404	HEK293-T-REx	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:63688849..63692176-chr11:63705277..63707600,3	MCF-7	breast:
2	chr11:63684287..63687288-chr11:63687997..63690522,4	MCF-7	breast:
3	chr11:63687365..63689977-chr11:63690538..63692122,2	K562	blood:
4	chr11:63687502..63689214-chr11:63695496..63697632,2	MCF-7	breast:
5	chr11:63687862..63689839-chr11:63702053..63703674,2	MCF-7	breast:
6	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
7	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:

No data

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000167771	Chromatin interaction
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1211783	1.00[YRI][hapmap]
rs161053	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs224174	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2873628	1.00[AMR][1000 genomes]
rs2957207	1.00[MEX][hapmap]
rs320110	1.00[MEX][hapmap]
rs320127	1.00[ASW][hapmap]
rs368421	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3802940	1.00[MEX][hapmap]
rs497037	1.00[ASW][hapmap]
rs4980510	1.00[ASW][hapmap]
rs7111805	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9326429	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
9	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63687400-63689600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:63687600-63689400	Enhancers	Placenta	Placenta
3	chr11:63687800-63689200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:63687800-63689200	Enhancers	Fetal Heart	heart
5	chr11:63688000-63689400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:63688000-63690200	Weak transcription	Esophagus	oesophagus
7	chr11:63688200-63689200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:63688200-63690600	Enhancers	Fetal Intestine Small	intestine
9	chr11:63688200-63691000	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:63688400-63689200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:63688400-63689200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:63688400-63689200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:63688600-63689200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:63688600-63689200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:63688600-63690400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:63688800-63689200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr11:63688800-63689200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:63688800-63689200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:63688800-63690600	Weak transcription	K562	blood
20	chr11:63688800-63692200	Weak transcription	Ovary	ovary
21	chr11:63689000-63689200	Enhancers	HepG2	liver
22	chr11:63689000-63690200	Weak transcription	Fetal Intestine Large	intestine
23	chr11:63689000-63690200	Weak transcription	Right Ventricle	heart
24	chr11:63689000-63690400	Weak transcription	Spleen	Spleen

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