Variant report

Variant	rs12479738
Chromosome Location	chr20:16286448-16286449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2093005	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887315	0.86[ASN][1000 genomes]
rs56777466	0.80[ASN][1000 genomes]
rs60041954	0.86[ASN][1000 genomes]
rs60635180	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080217	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080222	0.86[ASN][1000 genomes]
rs6514674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6514675	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7273594	0.83[ASN][1000 genomes]
rs73597760	0.86[ASN][1000 genomes]
rs73597764	0.82[ASN][1000 genomes]
rs8120605	0.82[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	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16247600-16290800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr20:16248600-16291400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:16252000-16289400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr20:16254000-16290800	Weak transcription	Esophagus	oesophagus
5	chr20:16254000-16298400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:16262600-16346200	Weak transcription	Gastric	stomach
7	chr20:16264800-16290800	Weak transcription	Lung	lung
8	chr20:16265000-16289000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:16265800-16289200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr20:16270800-16302400	Weak transcription	Brain Hippocampus Middle	brain
11	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
12	chr20:16282000-16286600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr20:16282000-16287400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:16283400-16295800	Weak transcription	Fetal Lung	lung
15	chr20:16283600-16289400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr20:16284000-16289200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:16284400-16290800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr20:16284400-16313600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr20:16284600-16287200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr20:16284600-16289200	Weak transcription	Aorta	Aorta
21	chr20:16284600-16294400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr20:16284600-16298200	Weak transcription	Primary B cells from cord blood	blood
23	chr20:16284600-16313600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr20:16284800-16289600	Weak transcription	Adipose Nuclei	Adipose
25	chr20:16284800-16290800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr20:16284800-16302400	Weak transcription	Brain Substantia Nigra	brain
27	chr20:16284800-16302800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr20:16285000-16290800	Weak transcription	Left Ventricle	heart
29	chr20:16285000-16295000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr20:16285200-16286800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr20:16285200-16294200	Weak transcription	Brain Anterior Caudate	brain
32	chr20:16285400-16330000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:16285800-16291400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr20:16286000-16298200	Weak transcription	Ovary	ovary
35	chr20:16286200-16288200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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