Variant report

Variant	rs7134717
Chromosome Location	chr12:30049165-30049166
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	TCF12	chr12:30048925-30049214	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr12:30048892-30049246	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr12:30048895-30049233	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30048962..30051425-chr12:30054034..30055862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253052	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1007811	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771594	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771595	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771597	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771598	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10771599	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843530	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843532	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10843533	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843535	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843540	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843541	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843542	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843543	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843544	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843561	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050510	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050517	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050522	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050531	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11050532	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11050533	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11050548	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12302114	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1545889	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1564772	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1564773	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2062290	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2062292	0.87[AFR][1000 genomes]
rs2062294	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2062295	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2129141	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4606557	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4623987	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6487852	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6487854	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6487855	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487856	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6487857	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6487858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487859	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487860	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7132925	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7134917	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136379	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7294362	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308012	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7308200	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7962173	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7971964	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7972136	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7972251	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7979975	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7980162	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980933	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv526146	chr12:29989292-30112823	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30037800-30049400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:30047800-30049800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:30048400-30049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:30048600-30049600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:30048600-30049600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:30048600-30049600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:30048600-30049800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:30048800-30049200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:30048800-30049600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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