Variant report

Variant	rs12822845
Chromosome Location	chr12:29736159-29736160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs12312423	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422557	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423770	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423941	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425004	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426386	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810686	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813081	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817852	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820766	1.00[EUR][1000 genomes]
rs12820809	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824107	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824420	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826187	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826210	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826354	1.00[EUR][1000 genomes]
rs12826633	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826911	0.88[AMR][1000 genomes]
rs12828726	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829843	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831066	1.00[EUR][1000 genomes]
rs28862044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299450	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34051575	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211411	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34265395	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34310782	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34377769	1.00[EUR][1000 genomes]
rs34384320	0.88[AMR][1000 genomes]
rs34401020	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34564434	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34598140	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34689118	1.00[EUR][1000 genomes]
rs34769239	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769930	1.00[EUR][1000 genomes]
rs34818263	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34867963	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906400	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35047658	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35205102	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35343129	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35372963	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35425592	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35439792	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35477340	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35666547	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725284	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856698	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35957198	1.00[EUR][1000 genomes]
rs36043605	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36070392	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36093094	1.00[EUR][1000 genomes]
rs3825242	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134105	1.00[EUR][1000 genomes]
rs71453743	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453744	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453746	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453748	1.00[EUR][1000 genomes]
rs71453749	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7316470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29709800-29756200	Weak transcription	HMEC	breast
2	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:29717600-29736400	Weak transcription	Psoas Muscle	Psoas
5	chr12:29720200-29743600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:29722600-29736400	Weak transcription	Fetal Stomach	stomach
7	chr12:29726000-29751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:29729400-29744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:29730400-29736200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:29731000-29742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:29731800-29769600	Weak transcription	Hela-S3	cervix
12	chr12:29732000-29737200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:29732200-29737200	Enhancers	Colon Smooth Muscle	Colon
14	chr12:29733600-29737000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:29733800-29737200	Enhancers	Adipose Nuclei	Adipose
16	chr12:29734000-29736600	Enhancers	Brain Anterior Caudate	brain
17	chr12:29734200-29737200	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:29734400-29736200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:29734600-29737000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:29734600-29737000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:29734600-29737200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:29734800-29736200	Enhancers	Brain Substantia Nigra	brain
23	chr12:29734800-29736800	Enhancers	NHLF	lung
24	chr12:29734800-29737200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:29735000-29736200	Enhancers	Ovary	ovary
26	chr12:29735200-29736600	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:29735200-29737000	Enhancers	Spleen	Spleen
28	chr12:29735200-29737200	Enhancers	Left Ventricle	heart
29	chr12:29735400-29736400	Weak transcription	Lung	lung
30	chr12:29735400-29737000	Enhancers	Fetal Heart	heart
31	chr12:29735400-29737200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:29735400-29745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:29735600-29736200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:29735600-29736600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr12:29735600-29737200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:29735800-29736200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:29735800-29736200	Flanking Active TSS	Liver	Liver
38	chr12:29735800-29736200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr12:29735800-29736200	Weak transcription	Right Ventricle	heart
40	chr12:29735800-29741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:29735800-29742400	Weak transcription	NHDF-Ad	bronchial
42	chr12:29736000-29736200	Enhancers	Osteobl	bone
43	chr12:29736000-29736400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:29736000-29736600	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:29736000-29737000	Weak transcription	Small Intestine	intestine
46	chr12:29736000-29742400	Weak transcription	HSMMtube	muscle
47	chr12:29736000-29743400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:29736000-29744200	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:29736000-29744200	Weak transcription	Right Atrium	heart
50	chr12:29736000-29752200	Weak transcription	HSMM	muscle

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