Variant report

Variant	rs34401020
Chromosome Location	chr12:29687539-29687540
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424383	0.88[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820766	1.00[EUR][1000 genomes]
rs12820809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822845	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826354	1.00[EUR][1000 genomes]
rs12826633	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826911	1.00[AMR][1000 genomes]
rs12828726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831066	1.00[EUR][1000 genomes]
rs28862044	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299450	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34051575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34265395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34310782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34377769	1.00[EUR][1000 genomes]
rs34384320	1.00[AMR][1000 genomes]
rs34564434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34598140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34689118	1.00[EUR][1000 genomes]
rs34769239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769930	1.00[EUR][1000 genomes]
rs34818263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34867963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35047658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35205102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35343129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35372963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35425592	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35439792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35477340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35666547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35957198	1.00[EUR][1000 genomes]
rs36043605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36070392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36093094	1.00[EUR][1000 genomes]
rs3825242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134105	1.00[EUR][1000 genomes]
rs71453743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453747	0.88[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:4 , 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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
2	chr12:29658400-29690200	Weak transcription	HMEC	breast
3	chr12:29660800-29690000	Weak transcription	NHDF-Ad	bronchial
4	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:29667200-29695600	Weak transcription	Ovary	ovary
6	chr12:29668600-29690000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:29668600-29695800	Weak transcription	Aorta	Aorta
8	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:29670600-29687800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:29670600-29697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:29670600-29699000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:29671000-29688000	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:29671000-29697200	Weak transcription	Spleen	Spleen
15	chr12:29671600-29695400	Weak transcription	Fetal Stomach	stomach
16	chr12:29671600-29697200	Weak transcription	Left Ventricle	heart
17	chr12:29673600-29708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:29673800-29687600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:29675800-29689400	Weak transcription	Hela-S3	cervix
20	chr12:29678000-29690000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:29678400-29695000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:29680600-29690400	Weak transcription	Fetal Kidney	kidney
23	chr12:29681600-29690400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:29681600-29695600	Weak transcription	Adipose Nuclei	Adipose
25	chr12:29681600-29695800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:29682200-29697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:29683600-29692800	Weak transcription	Psoas Muscle	Psoas
28	chr12:29686000-29688000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:29686200-29690800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:29686400-29687800	Enhancers	HSMM	muscle
31	chr12:29686800-29688200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:29686800-29688200	Enhancers	HSMMtube	muscle
33	chr12:29687000-29688200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:29687000-29688400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:29687000-29690000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:29687200-29688000	Enhancers	Brain Anterior Caudate	brain
37	chr12:29687200-29688200	Enhancers	Fetal Lung	lung
38	chr12:29687400-29688000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:29687400-29690000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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