Variant report

Variant	rs9636241
Chromosome Location	chr2:127780544-127780545
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	CTCF	chr2:127780491-127780768	K562	blood:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
2	ZBTB7A	chr2:127780497-127780672	K562	blood:	n/a	n/a
3	CTCF	chr2:127780520-127780670	HepG2	liver:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
4	CTCF	chr2:127780500-127780732	HepG2	liver:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
5	MYC	chr2:127780445-127780699	K562	blood:	n/a	n/a
6	RAD21	chr2:127780518-127780759	HepG2	liver:	n/a	chr2:127780621-127780640
7	CTCF	chr2:127780540-127780690	WERI-Rb-1	eye:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
8	CTCF	chr2:127780523-127780705	K562	blood:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
9	CTCF	chr2:127780480-127780630	HRE	kidney:	n/a	n/a
10	CTCF	chr2:127780480-127780630	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr2:127780480-127780630	K562	blood:	n/a	n/a
12	CTCF	chr2:127780469-127780793	K562	blood:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
13	CTCF	chr2:127780460-127780610	GM12872	blood:	n/a	n/a
14	CTCF	chr2:127780529-127780687	MCF-7	breast:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
15	MYC	chr2:127780518-127780586	K562	blood:	n/a	n/a
16	CTCF	chr2:127780520-127780670	K562	blood:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
17	CTCF	chr2:127780490-127780809	K562	blood:	n/a	chr2:127780622-127780643 chr2:127780621-127780637 chr2:127780620-127780638 chr2:127780623-127780632
18	CTCF	chr2:127780400-127780550	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr2:127780480-127780630	GM06990	blood:	n/a	n/a
20	ZNF143	chr2:127780543-127780634	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260163	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12476995	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12611852	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1438150	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1438151	0.92[CEU][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs2071269	0.89[EUR][1000 genomes]
rs2404176	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs3768865	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4663088	0.85[EUR][1000 genomes]
rs56971880	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59338031	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431217	0.91[CEU][hapmap]
rs66513437	0.87[EUR][1000 genomes]
rs6713701	0.92[CEU][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs6728529	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs6736518	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs744887	0.86[EUR][1000 genomes]
rs752780	0.83[CEU][hapmap]
rs753430	0.84[CEU][hapmap]
rs7571480	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7572041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7606043	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs893435	0.92[CEU][hapmap];0.81[YRI][hapmap];0.85[EUR][1000 genomes]
rs9677441	0.84[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	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9636241	BIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127778600-127782200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:127780400-127782800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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