Variant report

Variant	rs34076
Chromosome Location	chr7:12965473-12965474
allele	A/G
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	NR2F2	chr7:12965280-12965719	MCF-7	breast:	n/a	n/a
2	NR2F2	chr7:12965280-12965575	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:12753027..12755219-chr7:12963592..12965735,2	K562	blood:
2	chr7:12965459..12967674-chr7:12968950..12971042,2	K562	blood:
3	chr7:12915436..12917774-chr7:12964579..12966473,2	MCF-7	breast:

Variant related genes	Relation type
RBMX2P4	TF binding region
ENSG00000222974	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10254523	0.85[ASN][1000 genomes]
rs10479912	0.85[ASN][1000 genomes]
rs11765383	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13236466	0.87[ASN][1000 genomes]
rs2024402	0.89[ASN][1000 genomes]
rs246826	0.88[ASN][1000 genomes]
rs246828	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28478673	0.87[ASN][1000 genomes]
rs34044	0.87[ASN][1000 genomes]
rs34048	0.90[ASN][1000 genomes]
rs34049	0.89[ASN][1000 genomes]
rs34055	0.86[ASN][1000 genomes]
rs34066	0.86[ASN][1000 genomes]
rs34067	0.85[ASN][1000 genomes]
rs34068	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34073	1.00[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes]
rs34077	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs34078	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4719343	1.00[ASW][hapmap]
rs4721165	0.87[ASN][1000 genomes]
rs58455143	0.88[ASN][1000 genomes]
rs6969615	0.83[ASN][1000 genomes]
rs73301278	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv464382	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv606237	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1831024	chr7:12964294-12974414	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12962000-12967000	Weak transcription	Stomach Mucosa	stomach
2	chr7:12962000-12967400	Weak transcription	Fetal Intestine Large	intestine
3	chr7:12962000-12970200	Weak transcription	HUVEC	blood vessel
4	chr7:12962200-12967200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:12962600-12966000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:12964400-12965600	Weak transcription	HMEC	breast
7	chr7:12964400-12967200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:12964400-12969200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:12964800-12965800	Weak transcription	NHEK	skin
10	chr7:12965200-12965600	Enhancers	Liver	Liver
11	chr7:12965200-12966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:12965200-12966800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:12965200-12968200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:12965400-12966600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:12965400-12968400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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