Variant report

Variant	rs12506112
Chromosome Location	chr4:128426100-128426101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10005550	0.80[ASN][1000 genomes]
rs10212983	0.81[ASN][1000 genomes]
rs11098924	0.84[ASN][1000 genomes]
rs11728212	0.81[ASN][1000 genomes]
rs11937218	0.92[ASN][1000 genomes]
rs12499018	0.92[ASN][1000 genomes]
rs12500373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12502458	0.94[ASN][1000 genomes]
rs12505420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505574	0.92[ASN][1000 genomes]
rs12506317	0.92[ASN][1000 genomes]
rs12508021	0.94[ASN][1000 genomes]
rs12513002	0.92[ASN][1000 genomes]
rs12513073	0.92[ASN][1000 genomes]
rs12513077	0.92[ASN][1000 genomes]
rs12641215	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12644377	0.90[JPT][hapmap]
rs13136353	0.82[ASN][1000 genomes]
rs13147738	0.83[ASN][1000 genomes]
rs1355927	0.82[ASN][1000 genomes]
rs1373026	0.90[EUR][1000 genomes]
rs1443165	0.90[EUR][1000 genomes]
rs1443167	0.90[EUR][1000 genomes]
rs1514304	0.83[ASN][1000 genomes]
rs1514306	0.83[ASN][1000 genomes]
rs1514307	0.83[ASN][1000 genomes]
rs1514308	0.82[ASN][1000 genomes]
rs1514309	0.82[ASN][1000 genomes]
rs1514312	0.80[ASN][1000 genomes]
rs1514313	0.81[ASN][1000 genomes]
rs1514314	0.81[ASN][1000 genomes]
rs1514315	0.81[ASN][1000 genomes]
rs17012484	0.94[ASN][1000 genomes]
rs17012500	0.92[ASN][1000 genomes]
rs17012503	0.91[ASN][1000 genomes]
rs17012525	0.81[ASN][1000 genomes]
rs1913463	0.82[ASN][1000 genomes]
rs2002543	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2007243	0.93[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2090103	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2137866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56077955	0.92[ASN][1000 genomes]
rs57872398	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58348395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59695248	0.94[ASN][1000 genomes]
rs61143634	0.92[ASN][1000 genomes]
rs6815196	0.90[JPT][hapmap]
rs6817525	0.82[ASN][1000 genomes]
rs6851269	0.82[ASN][1000 genomes]
rs72621856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621859	0.92[ASN][1000 genomes]
rs72621860	0.92[ASN][1000 genomes]
rs72621861	0.92[ASN][1000 genomes]
rs72621862	0.92[ASN][1000 genomes]
rs72621863	0.82[ASN][1000 genomes]
rs72621865	0.80[ASN][1000 genomes]
rs72621866	0.81[ASN][1000 genomes]
rs72621867	0.81[ASN][1000 genomes]
rs72621868	0.81[ASN][1000 genomes]
rs72621869	0.81[ASN][1000 genomes]
rs72621870	0.81[ASN][1000 genomes]
rs72621871	0.81[ASN][1000 genomes]
rs72621872	0.80[ASN][1000 genomes]
rs7435603	0.94[ASN][1000 genomes]
rs7439365	0.85[JPT][hapmap]
rs9992141	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1015564	chr4:128394657-128506962	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017325	chr4:128408370-128509276	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv595387	chr4:128410916-128523964	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128422600-128426400	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:128422600-128426400	Weak transcription	K562	blood
3	chr4:128422600-128427000	Weak transcription	Left Ventricle	heart
4	chr4:128422600-128427000	Weak transcription	Ovary	ovary
5	chr4:128422600-128427000	Weak transcription	Right Ventricle	heart
6	chr4:128422600-128427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:128422800-128426200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:128422800-128426400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:128422800-128428600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:128423600-128426200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:128424000-128426400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:128424600-128426200	Weak transcription	NH-A	brain
13	chr4:128424800-128438400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:128425000-128426400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:128425400-128428400	Enhancers	Fetal Heart	heart
16	chr4:128425600-128426400	Enhancers	Fetal Lung	lung
17	chr4:128425800-128426800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:128425800-128426800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:128425800-128426800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:128425800-128426800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:128425800-128426800	Enhancers	NHDF-Ad	bronchial
22	chr4:128425800-128426800	Enhancers	NHLF	lung
23	chr4:128426000-128426400	Enhancers	Brain Germinal Matrix	brain

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