Variant report

Variant	rs12052650
Chromosome Location	chr2:40640006-40640007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10205556	0.90[CHB][hapmap]
rs11901878	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs12052649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12052800	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12105764	0.90[CHB][hapmap]
rs12988659	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13017237	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13023706	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13414307	0.85[CHB][hapmap];0.81[YRI][hapmap]
rs13418726	0.90[CHB][hapmap]
rs17025965	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17025994	0.89[ASN][1000 genomes]
rs2888677	0.85[CHB][hapmap]
rs34528721	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35129449	0.87[ASN][1000 genomes]
rs4366950	0.81[CHB][hapmap];0.85[YRI][hapmap]
rs4629203	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs4952621	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6712702	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs6737011	0.86[CHB][hapmap];0.90[YRI][hapmap]
rs6742589	0.95[ASN][1000 genomes]
rs7579930	0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9789737	0.88[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789739	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1007027	chr2:40627475-40649916	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40634800-40644800	Weak transcription	Left Ventricle	heart
3	chr2:40634800-40645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:40635800-40643800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:40635800-40652600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40636000-40645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:40636200-40646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:40637000-40645600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:40637200-40645600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:40637200-40646000	Weak transcription	Right Ventricle	heart
11	chr2:40637200-40649000	Weak transcription	Dnd41	blood
12	chr2:40637400-40643600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:40639000-40640200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:40639200-40640200	Flanking Active TSS	Fetal Heart	heart
15	chr2:40639200-40640200	Enhancers	NHEK	skin
16	chr2:40639800-40640200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:40639800-40643600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:40639800-40643600	Weak transcription	HMEC	breast
19	chr2:40639800-40643800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:40640000-40640600	Weak transcription	HSMM	muscle
21	chr2:40640000-40641400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40640000-40645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:40640000-40645800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:40640000-40646600	Weak transcription	Osteobl	bone
25	chr2:40640000-40647600	Weak transcription	NHLF	lung

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