Variant report

Variant	rs1402718
Chromosome Location	chr2:212894077-212894078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10169217	0.82[ASN][1000 genomes]
rs10197270	1.00[CHB][hapmap]
rs10445808	1.00[CHB][hapmap]
rs10497958	1.00[CHB][hapmap]
rs12373751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12464843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12466520	0.94[ASN][1000 genomes]
rs12470737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12473708	1.00[CHB][hapmap]
rs12476163	1.00[CHB][hapmap]
rs12477159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12478950	1.00[CHB][hapmap]
rs1402716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1464443	1.00[CHB][hapmap]
rs1473636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1473637	0.94[ASN][1000 genomes]
rs1473638	1.00[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1521537	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1521550	1.00[CHB][hapmap]
rs1521553	1.00[CHB][hapmap]
rs1546717	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16847568	1.00[CHB][hapmap]
rs16847575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16847580	1.00[CHB][hapmap]
rs17343912	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17343932	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs17344065	1.00[CHB][hapmap]
rs17415843	0.89[ASN][1000 genomes]
rs17415969	1.00[CHB][hapmap]
rs17416172	1.00[CHB][hapmap]
rs1879637	0.85[JPT][hapmap]
rs2139939	1.00[CHB][hapmap]
rs2139940	1.00[CHB][hapmap]
rs2371444	1.00[CHB][hapmap]
rs4672634	1.00[CHB][hapmap]
rs4672636	1.00[CHB][hapmap]
rs59081924	0.84[ASN][1000 genomes]
rs6435684	0.94[ASN][1000 genomes]
rs6435691	1.00[CHB][hapmap]
rs6712126	1.00[CHB][hapmap]
rs6715981	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73087372	1.00[ASN][1000 genomes]
rs7574462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7582903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7595560	0.82[ASN][1000 genomes]
rs939645	1.00[CHB][hapmap]
rs960824	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9678219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv875800	chr2:212856539-212896571	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1014136	chr2:212883977-212915640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr2:212887400-212896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:212891800-212894200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212892400-212896200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:212892600-212894800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:212893000-212895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:212893000-212896200	Weak transcription	HSMM	muscle
7	chr2:212893000-212896200	Weak transcription	NHLF	lung
8	chr2:212893000-212896400	Weak transcription	Hela-S3	cervix
9	chr2:212893000-212896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:212893200-212894400	Weak transcription	Fetal Heart	heart
11	chr2:212893200-212902000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:212893400-212895000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:212893400-212896200	Weak transcription	Brain Anterior Caudate	brain
14	chr2:212893400-212896400	Weak transcription	HUVEC	blood vessel
15	chr2:212893800-212895600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:212893800-212895600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:212893800-212896200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:212893800-212896200	Weak transcription	HSMMtube	muscle
19	chr2:212894000-212895000	Weak transcription	Osteobl	bone

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