Variant report

Variant	rs12464471
Chromosome Location	chr2:63686428-63686429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10164844	0.86[JPT][hapmap]
rs10200146	0.86[JPT][hapmap]
rs10496102	0.84[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1109027	0.81[GIH][hapmap];0.81[MEX][hapmap];1.00[YRI][hapmap]
rs12466601	1.00[YRI][hapmap]
rs12470478	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12472865	1.00[YRI][hapmap]
rs12476015	0.82[ASN][1000 genomes]
rs12478365	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12478442	1.00[YRI][hapmap]
rs17617855	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17618045	0.81[GIH][hapmap];0.81[MEX][hapmap];1.00[YRI][hapmap]
rs17618390	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2278718	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2421891	0.84[JPT][hapmap]
rs4671062	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56219461	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6731136	0.86[JPT][hapmap]
rs72806004	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72806010	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72806027	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72821624	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821628	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72821630	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72821631	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72821632	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
2	chr2:63662000-63698000	Weak transcription	Ovary	ovary
3	chr2:63662800-63688000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:63666400-63688000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:63666600-63726800	Weak transcription	Gastric	stomach
6	chr2:63673600-63697800	Weak transcription	Left Ventricle	heart
7	chr2:63674400-63693200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:63675800-63712000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:63680400-63698400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:63680600-63705800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:63680800-63686800	Weak transcription	Lung	lung
12	chr2:63681400-63688800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr2:63681600-63717800	Weak transcription	Aorta	Aorta
14	chr2:63682000-63686600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:63682200-63687800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:63682200-63688200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:63682400-63686800	Weak transcription	Fetal Brain Male	brain
18	chr2:63682400-63688600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:63682400-63717600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:63683000-63687800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:63683400-63712800	Weak transcription	Fetal Thymus	thymus
22	chr2:63683600-63688000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:63684200-63686600	Weak transcription	Fetal Stomach	stomach
24	chr2:63684600-63698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:63684800-63695400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:63685600-63688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:63685800-63686800	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr2:63685800-63692800	Weak transcription	Fetal Heart	heart
29	chr2:63686000-63687400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr2:63686000-63688400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:63686000-63704600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:63686200-63686600	Weak transcription	Liver	Liver
33	chr2:63686200-63698400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:63686400-63688200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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