Variant report

Variant	rs12328065
Chromosome Location	chr2:33598889-33598890
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10167082	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10185344	0.90[EUR][1000 genomes]
rs10190501	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13386072	0.92[EUR][1000 genomes]
rs13428115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3845775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6706620	0.90[EUR][1000 genomes]
rs6709900	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6736026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861454	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72861492	0.91[EUR][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
3	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
5	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:33588400-33624400	Weak transcription	Gastric	stomach
8	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:33590800-33612600	Weak transcription	Ovary	ovary
12	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:33591800-33601800	Weak transcription	NHLF	lung
14	chr2:33592000-33600200	Weak transcription	Psoas Muscle	Psoas
15	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:33592400-33601600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:33595200-33601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:33595200-33609200	Weak transcription	Left Ventricle	heart
19	chr2:33596200-33599000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:33596200-33599000	Weak transcription	Fetal Lung	lung
21	chr2:33596200-33601400	Weak transcription	Aorta	Aorta
22	chr2:33596200-33614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:33596400-33613800	Weak transcription	Liver	Liver
24	chr2:33596600-33603800	Weak transcription	NH-A	brain
25	chr2:33597000-33600200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:33597000-33609000	Weak transcription	Fetal Heart	heart
27	chr2:33597200-33622200	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:33597400-33600400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:33597400-33603600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:33597400-33610200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:33597600-33600200	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:33597600-33601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:33598000-33599000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:33598000-33599200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:33598000-33600200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:33598000-33603800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:33598200-33605000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:33598400-33600400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:33598400-33600600	Enhancers	Osteobl	bone
40	chr2:33598400-33600800	Enhancers	NHDF-Ad	bronchial

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