Variant report

Variant	rs12447074
Chromosome Location	chr16:64999566-64999567
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:64967316..64969634-chr16:64999143..65001361,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12443990	0.93[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12448289	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1520228	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64980000-65005200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:64983000-65003200	Weak transcription	Brain Substantia Nigra	brain
3	chr16:64983200-65004400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:64984400-65002400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:64984600-65002200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:64984800-65004600	Weak transcription	Fetal Brain Female	brain
7	chr16:64984800-65005400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:64985000-65002200	Weak transcription	Brain Anterior Caudate	brain
9	chr16:64985000-65002400	Weak transcription	Brain Angular Gyrus	brain
10	chr16:64985000-65004400	Weak transcription	Fetal Intestine Large	intestine
11	chr16:64985000-65005200	Weak transcription	Brain Germinal Matrix	brain
12	chr16:64985000-65005800	Weak transcription	Aorta	Aorta
13	chr16:64985000-65011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:64985200-65004400	Weak transcription	Fetal Brain Male	brain
15	chr16:64985400-65004200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:64985400-65004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:64985400-65005800	Weak transcription	Spleen	Spleen
18	chr16:64985400-65015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:64986200-65003000	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:64986200-65004200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:64986400-65004000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:64986400-65004200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr16:64987000-65002600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:64987000-65003200	Weak transcription	NHLF	lung
25	chr16:64989600-65001000	Weak transcription	Fetal Stomach	stomach
26	chr16:64991200-65004200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:64995000-65004400	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:64995400-65000600	Weak transcription	NHDF-Ad	bronchial
30	chr16:64996400-64999800	Strong transcription	Fetal Lung	lung
31	chr16:64996800-65002200	Weak transcription	HSMMtube	muscle
32	chr16:64998000-65024800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:64998200-65002200	Strong transcription	Osteobl	bone
34	chr16:64998200-65002600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:64998400-65001200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr16:64998400-65004400	Weak transcription	HMEC	breast
37	chr16:64998400-65014800	Weak transcription	HUVEC	blood vessel
38	chr16:64998800-65002600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:64999000-64999600	Strong transcription	Ovary	ovary
40	chr16:64999200-65000000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:64999200-65000200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr16:64999200-65001400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:64999200-65010200	Strong transcription	HSMM	muscle
44	chr16:64999200-65017800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:64999200-65017800	Strong transcription	NH-A	brain
46	chr16:64999400-64999600	ZNF genes & repeats	Fetal Kidney	kidney

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