Variant report

Variant	rs74081044
Chromosome Location	chr12:29664553-29664554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10161532	1.00[AMR][1000 genomes]
rs10492378	1.00[AMR][1000 genomes]
rs11050227	1.00[AMR][1000 genomes]
rs11050228	1.00[AMR][1000 genomes]
rs11050230	1.00[AMR][1000 genomes]
rs12304563	1.00[AMR][1000 genomes]
rs12305868	1.00[AMR][1000 genomes]
rs12314430	1.00[AMR][1000 genomes]
rs12314964	1.00[AMR][1000 genomes]
rs12315111	1.00[AMR][1000 genomes]
rs12318046	1.00[AMR][1000 genomes]
rs12320036	1.00[AMR][1000 genomes]
rs12321184	1.00[AMR][1000 genomes]
rs1369901	1.00[AMR][1000 genomes]
rs16934299	1.00[AMR][1000 genomes]
rs34730070	1.00[AMR][1000 genomes]
rs3816113	1.00[AMR][1000 genomes]
rs56331080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56753618	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57061071	1.00[AMR][1000 genomes]
rs74081043	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
2	chr12:29613600-29666800	Weak transcription	Spleen	Spleen
3	chr12:29638400-29666600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:29640000-29669200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
6	chr12:29652200-29673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:29653400-29672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:29654000-29666600	Weak transcription	Fetal Kidney	kidney
9	chr12:29654000-29667000	Weak transcription	Fetal Stomach	stomach
10	chr12:29654000-29668200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:29654000-29669200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:29654000-29669200	Weak transcription	NHLF	lung
13	chr12:29654200-29666800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:29654600-29669000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:29655200-29669400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:29655400-29672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:29656200-29669200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:29656200-29673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:29656400-29666800	Weak transcription	Brain Substantia Nigra	brain
20	chr12:29657000-29666600	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:29657200-29675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:29657800-29668200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:29658000-29669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:29658000-29680200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:29658000-29681200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:29658200-29668200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:29658200-29669400	Weak transcription	Liver	Liver
28	chr12:29658400-29666000	Weak transcription	HSMM	muscle
29	chr12:29658400-29666800	Weak transcription	Aorta	Aorta
30	chr12:29658400-29669600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:29658400-29670000	Weak transcription	Lung	lung
32	chr12:29658400-29690200	Weak transcription	HMEC	breast
33	chr12:29658600-29670200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:29658600-29678800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:29659600-29666800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:29659800-29669600	Weak transcription	HSMMtube	muscle
37	chr12:29660000-29665800	Weak transcription	Hela-S3	cervix
38	chr12:29660000-29672800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:29660400-29667000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:29660800-29690000	Weak transcription	NHDF-Ad	bronchial
41	chr12:29661400-29668600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:29662200-29666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:29662400-29665000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:29662600-29666800	Weak transcription	Ovary	ovary
45	chr12:29662800-29667600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:29663000-29669200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:29663200-29666600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:29663400-29671600	Strong transcription	Left Ventricle	heart
49	chr12:29663600-29664600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:29664000-29666800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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