Variant report

Variant	rs1155611
Chromosome Location	chr1:239897827-239897828
allele	C/T
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	FOSL2	chr1:239897230-239897827	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr1:239897094-239897951	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr1:239897262-239897856	SK-N-SH	brain:	n/a	n/a
4	EP300	chr1:239897202-239897879	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr1:239897126-239897899	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr1:239897128-239897895	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr1:239897221-239897867	SK-N-SH	brain:	n/a	n/a
8	EP300	chr1:239896980-239899701	SK-N-SH	brain:	n/a	chr1:239898325-239898339 chr1:239897082-239897091 chr1:239897070-239897084
9	TCF12	chr1:239897178-239897848	SK-N-SH	brain:	n/a	n/a
10	EP300	chr1:239897144-239897925	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr1:239897134-239897928	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr1:239897271-239897830	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CHRM3-AS2	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1014670	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1019881	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1019882	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10737838	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10802793	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10802794	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10802795	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10802798	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10802801	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10802802	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10925964	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10925970	0.92[EUR][1000 genomes]
rs1134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11579382	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11585281	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12029701	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12060884	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12118652	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403497	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12407154	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12743042	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12751235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1416789	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1431719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1431721	0.88[CEU][hapmap];0.82[YRI][hapmap]
rs1544170	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2217532	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2278642	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278643	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278644	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2355237	0.80[AFR][1000 genomes]
rs2355238	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3738436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6429154	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6663632	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684622	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6695600	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7511970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7513746	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7513757	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7537514	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7552453	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs934344	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats 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	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2757778	chr1:239766094-240389504	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv2759009	chr1:239766094-240389504	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239885600-239905600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:239886800-239908200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:239889000-239949800	Weak transcription	Pancreas	Pancrea
4	chr1:239891200-239918400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:239891600-239898000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:239895200-239898400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:239895200-239901400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:239895800-239898200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:239896800-239898400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:239896800-239898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:239897200-239898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:239897400-239898800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:239897600-239905600	Weak transcription	Primary hematopoietic stem cells	blood

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