Variant report

Variant	rs12328630
Chromosome Location	chr2:40629281-40629282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13422783	0.94[ASN][1000 genomes]
rs17025946	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17025948	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17039007	0.95[ASN][1000 genomes]
rs60409867	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745267	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73926212	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7576564	1.00[EUR][1000 genomes]
rs991938	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40622200-40635600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:40622800-40630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:40622800-40630400	Weak transcription	Psoas Muscle	Psoas
4	chr2:40623000-40630400	Weak transcription	Fetal Brain Male	brain
5	chr2:40623000-40630800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:40623000-40634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:40623600-40629800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:40623600-40635000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:40624200-40633600	Weak transcription	Dnd41	blood
11	chr2:40625400-40630600	Weak transcription	Fetal Brain Female	brain
12	chr2:40625400-40631800	Weak transcription	Right Atrium	heart
13	chr2:40627400-40629400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:40627400-40632800	Enhancers	HMEC	breast
15	chr2:40627400-40633000	Enhancers	NH-A	brain
16	chr2:40627600-40629400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:40627600-40630800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:40627600-40631200	Enhancers	HSMM	muscle
19	chr2:40627600-40631600	Enhancers	NHEK	skin
20	chr2:40627600-40631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:40627600-40633000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40627600-40633000	Enhancers	NHLF	lung
23	chr2:40627800-40630000	Enhancers	A549	lung
24	chr2:40627800-40632000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:40627800-40632400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:40628000-40630000	Enhancers	HUVEC	blood vessel
27	chr2:40628000-40630400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:40628000-40633000	Enhancers	Osteobl	bone
29	chr2:40628200-40629400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:40628200-40629400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:40628200-40630200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:40628200-40630600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:40628200-40631000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:40628200-40631400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:40628200-40631600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:40628200-40633000	Enhancers	NHDF-Ad	bronchial
37	chr2:40628200-40633600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:40628400-40630000	Weak transcription	Brain Anterior Caudate	brain
39	chr2:40628400-40630400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:40628400-40631400	Enhancers	Fetal Heart	heart
41	chr2:40628400-40631600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:40628400-40631600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:40628400-40634000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:40628400-40634600	Weak transcription	Adipose Nuclei	Adipose
45	chr2:40628400-40636800	Weak transcription	Right Ventricle	heart
46	chr2:40628600-40629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:40628600-40631200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:40628800-40629400	Enhancers	Left Ventricle	heart
49	chr2:40629000-40629400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:40629000-40629600	Enhancers	Hela-S3	cervix

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