Variant report

Variant	rs12712682
Chromosome Location	chr2:40356642-40356643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10205502	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10208777	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2110923	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110924	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2110925	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110927	0.94[ASN][1000 genomes]
rs2160364	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2160365	0.96[ASN][1000 genomes]
rs2373793	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2373794	0.97[ASN][1000 genomes]
rs4952490	0.82[ASN][1000 genomes]
rs4952491	0.82[ASN][1000 genomes]
rs6739058	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7586346	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs759444	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs888073	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9309051	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs985991	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873905	chr2:40341847-40364895	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv873906	chr2:40341847-40385045	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv873907	chr2:40349094-40381369	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1005758	chr2:40349403-40381369	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv873908	chr2:40351453-40371095	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:40341600-40357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:40342800-40357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:40349800-40358200	Enhancers	Osteobl	bone
5	chr2:40349800-40359600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40350200-40358000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:40350800-40356800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:40351000-40358200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:40351200-40358000	Enhancers	NHDF-Ad	bronchial
10	chr2:40351400-40357000	Weak transcription	Aorta	Aorta
11	chr2:40351600-40360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:40352800-40358000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:40354000-40358600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:40354400-40357400	Genic enhancers	Fetal Heart	heart
15	chr2:40354400-40358800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:40354600-40357800	Enhancers	Left Ventricle	heart
17	chr2:40354600-40358000	Enhancers	HSMM	muscle
18	chr2:40354600-40366600	Weak transcription	Lung	lung
19	chr2:40354800-40356800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:40355000-40366200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:40355200-40357200	Enhancers	Right Ventricle	heart
22	chr2:40355200-40357600	Weak transcription	Dnd41	blood
23	chr2:40355400-40383800	Weak transcription	Small Intestine	intestine
24	chr2:40355800-40356800	Weak transcription	Ovary	ovary
25	chr2:40355800-40356800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:40355800-40357000	Weak transcription	Fetal Lung	lung
27	chr2:40355800-40357000	Weak transcription	Fetal Stomach	stomach
28	chr2:40355800-40357000	Weak transcription	NH-A	brain
29	chr2:40355800-40357200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:40355800-40357200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:40355800-40357400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:40355800-40357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:40355800-40357600	Enhancers	HSMMtube	muscle
34	chr2:40355800-40357800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:40355800-40365600	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:40355800-40370000	Weak transcription	Fetal Brain Male	brain
37	chr2:40356000-40357000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:40356000-40367400	Weak transcription	Fetal Brain Female	brain
39	chr2:40356400-40356800	Weak transcription	NHLF	lung
40	chr2:40356400-40357000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:40356400-40357200	Enhancers	Right Atrium	heart
42	chr2:40356400-40357800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:40356600-40358400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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