Variant report

Variant	rs12820666
Chromosome Location	chr12:65081213-65081214
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12812333	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12815802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs12828259	0.89[EUR][1000 genomes]
rs12832292	1.00[YRI][hapmap]
rs35011112	0.85[EUR][1000 genomes]
rs35127263	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35846274	0.87[EUR][1000 genomes]
rs4964087	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs55668439	0.92[EUR][1000 genomes]
rs56136505	0.85[EUR][1000 genomes]
rs56206108	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61931658	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67264294	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9788201	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65068400-65087200	Weak transcription	Liver	Liver
2	chr12:65070000-65085200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:65070000-65092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:65072200-65081600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:65074000-65081600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:65074200-65081400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:65075000-65081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:65075000-65108400	Weak transcription	NH-A	brain
9	chr12:65075200-65082000	Weak transcription	NHEK	skin
10	chr12:65075200-65082200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:65075200-65087400	Weak transcription	HMEC	breast
12	chr12:65075400-65088600	Weak transcription	Esophagus	oesophagus
13	chr12:65075600-65081600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:65075800-65081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:65075800-65081600	Weak transcription	Right Atrium	heart
16	chr12:65077000-65081400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:65077000-65085000	Weak transcription	Hela-S3	cervix
18	chr12:65077000-65086800	Weak transcription	Osteobl	bone
19	chr12:65077000-65091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:65077200-65081400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:65077200-65081400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:65077200-65082600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:65077200-65085000	Weak transcription	Fetal Kidney	kidney
24	chr12:65077200-65088200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:65077200-65088600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:65077200-65091800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:65077200-65106800	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:65077400-65081400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:65077400-65081400	Weak transcription	K562	blood
30	chr12:65077400-65081600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:65077400-65081600	Weak transcription	Psoas Muscle	Psoas
32	chr12:65077400-65081800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:65077400-65085200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:65077400-65088600	Weak transcription	Ovary	ovary
35	chr12:65077400-65091800	Weak transcription	Brain Anterior Caudate	brain
36	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:65077600-65081400	Weak transcription	Fetal Heart	heart
38	chr12:65077600-65081400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:65077600-65081600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:65077600-65081600	Weak transcription	Stomach Mucosa	stomach
41	chr12:65077600-65091800	Weak transcription	Brain Substantia Nigra	brain
42	chr12:65077800-65081800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:65078000-65081400	Weak transcription	Fetal Lung	lung
44	chr12:65078200-65081600	Strong transcription	Fetal Stomach	stomach
45	chr12:65078200-65081600	Weak transcription	Small Intestine	intestine
46	chr12:65078200-65082000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:65078200-65083000	Strong transcription	Fetal Intestine Small	intestine
48	chr12:65078400-65083000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:65078400-65083400	Strong transcription	GM12878-XiMat	blood
50	chr12:65078400-65083600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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