Variant report

Variant	rs12478950
Chromosome Location	chr2:212892250-212892251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212891168..212892898-chr5:170814131..170816510,2	MCF-7	breast:
2	chr2:212891576..212893248-chr2:212907537..212909277,2	K562	blood:

Variant related genes	Relation type
ENSG00000181163	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10197270	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10445808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497958	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11692869	0.91[ASN][1000 genomes]
rs12373751	1.00[CHB][hapmap]
rs12464843	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs12466520	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12468427	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12470737	1.00[CHB][hapmap]
rs12473708	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12476163	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12477159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1402716	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1402718	1.00[CHB][hapmap]
rs1464443	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1473636	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1473638	1.00[CHB][hapmap]
rs1521537	1.00[CHD][hapmap]
rs1521550	1.00[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap]
rs1521553	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1546717	1.00[CHD][hapmap]
rs16847568	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16847575	1.00[CHB][hapmap]
rs16847580	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17343912	1.00[CHB][hapmap]
rs17343932	1.00[CHB][hapmap]
rs17344051	1.00[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs17344065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17415969	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17416172	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2139939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2139940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2371444	1.00[CHB][hapmap]
rs41422148	0.82[YRI][hapmap]
rs41476746	0.82[YRI][hapmap]
rs4672634	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4672636	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4672637	0.87[ASN][1000 genomes]
rs56993927	0.87[ASN][1000 genomes]
rs60885616	0.95[ASN][1000 genomes]
rs61193005	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435691	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs6712126	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs6756532	0.82[YRI][hapmap]
rs7574462	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7582903	1.00[CHB][hapmap]
rs7597057	0.82[YRI][hapmap]
rs939645	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs960824	0.83[CHD][hapmap]
rs9678219	1.00[CHB][hapmap];1.00[CHD][hapmap]

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:14 , 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	chr2:212889400-212893000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:212889800-212892600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:212891800-212893000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:212891800-212893800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:212891800-212894200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:212892000-212892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:212892000-212893400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:212892000-212893400	Enhancers	HUVEC	blood vessel
10	chr2:212892000-212894000	Enhancers	Osteobl	bone
11	chr2:212892200-212893000	Enhancers	Hela-S3	cervix
12	chr2:212892200-212893000	Enhancers	HSMM	muscle
13	chr2:212892200-212893200	Enhancers	Fetal Heart	heart
14	chr2:212892200-212893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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