Variant report

Variant	rs60870773
Chromosome Location	chr12:42634397-42634398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:42634204-42634469	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr12:42633935-42634604	H1-hESC	embryonic stem cell:	n/a	n/a
3	NANOG	chr12:42633986-42634531	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr12:42633945-42634605	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:42633995-42634484	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUN	chr12:42634001-42634641	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
2	chr12:42633699..42635354-chr12:42650492..42652110,2	K562	blood:
3	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL10P	TF binding region
YAF2	TF binding region
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10160853	1.00[EUR][1000 genomes]
rs10506175	1.00[EUR][1000 genomes]
rs11181360	1.00[EUR][1000 genomes]
rs11181373	1.00[EUR][1000 genomes]
rs11610892	0.81[ASN][1000 genomes]
rs12297206	1.00[EUR][1000 genomes]
rs12300188	1.00[EUR][1000 genomes]
rs12312515	1.00[EUR][1000 genomes]
rs12315471	1.00[EUR][1000 genomes]
rs12317772	1.00[EUR][1000 genomes]
rs12318401	1.00[EUR][1000 genomes]
rs12819127	0.81[ASN][1000 genomes]
rs1872444	0.81[ASN][1000 genomes]
rs1987127	1.00[EUR][1000 genomes]
rs2406566	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34329231	0.81[ASN][1000 genomes]
rs34331898	0.81[ASN][1000 genomes]
rs34842994	0.81[ASN][1000 genomes]
rs35682620	0.81[ASN][1000 genomes]
rs35986152	0.81[ASN][1000 genomes]
rs59876649	1.00[EUR][1000 genomes]
rs60278477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60287587	1.00[EUR][1000 genomes]
rs61279714	0.81[ASN][1000 genomes]
rs61647009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67788023	0.81[ASN][1000 genomes]
rs73114487	1.00[EUR][1000 genomes]
rs73114498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116429	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73116432	1.00[EUR][1000 genomes]
rs73116441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73127416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127418	1.00[EUR][1000 genomes]
rs73127421	1.00[EUR][1000 genomes]
rs73127428	1.00[EUR][1000 genomes]
rs73127435	1.00[EUR][1000 genomes]
rs73127445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131138	1.00[EUR][1000 genomes]
rs73131166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42632600-42635200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:42633000-42634800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:42633200-42635000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr12:42634000-42635600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr12:42634200-42634400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
6	chr12:42634200-42634400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr12:42634200-42634400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:42634200-42634600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr12:42634200-42634600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr12:42634200-42635200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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