Variant report

Variant	rs3112931
Chromosome Location	chr2:180427409-180427410
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	KAP1	chr2:180427051-180427587	HEK293	kidney:	n/a	n/a
2	ZNF263	chr2:180427003-180427533	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
ZNF385B	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10169569	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674582	1.00[JPT][hapmap]
rs11683272	1.00[JPT][hapmap]
rs11688895	1.00[JPT][hapmap]
rs11888508	1.00[CHD][hapmap]
rs11894850	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12693194	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12991713	1.00[JPT][hapmap]
rs12997546	0.82[ASN][1000 genomes]
rs13030456	1.00[JPT][hapmap]
rs13035596	1.00[JPT][hapmap]
rs1399692	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515295	1.00[CHD][hapmap]
rs1515297	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1515298	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16866773	1.00[CHD][hapmap]
rs16866782	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17816271	1.00[JPT][hapmap]
rs17816284	1.00[CHD][hapmap]
rs2203459	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222032	0.82[JPT][hapmap]
rs3112926	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112933	0.82[ASN][1000 genomes]
rs4267476	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4530328	1.00[JPT][hapmap]
rs56201866	0.82[ASN][1000 genomes]
rs62179171	0.82[ASN][1000 genomes]
rs6433796	1.00[JPT][hapmap]
rs6722937	0.84[JPT][hapmap]
rs713463	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7579911	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868271	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868272	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868273	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868274	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999000	0.83[ASW][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][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	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2760587	chr2:180409470-180430552	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009492	chr2:180418199-180429152	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv1013108	chr2:180418199-180430057	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv1008996	chr2:180418199-180430552	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180426600-180427600	Enhancers	Fetal Heart	heart
3	chr2:180426800-180427600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:180426800-180428000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:180427000-180427600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:180427000-180427600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:180427000-180427800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:180427000-180427800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:180427200-180427600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:180427200-180427600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:180427200-180427600	Flanking Active TSS	Liver	Liver
12	chr2:180427400-180427600	Enhancers	HSMMtube	muscle
13	chr2:180427400-180428000	Enhancers	Fetal Kidney	kidney
14	chr2:180427400-180428000	Enhancers	HepG2	liver
15	chr2:180427400-180428200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:180427400-180428400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:180427400-180429600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:180427400-180430600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:180427400-180436400	Weak transcription	Psoas Muscle	Psoas

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