Variant report

Variant	rs73185393
Chromosome Location	chr3:178718297-178718298
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4076914	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4128351	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4287947	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4955803	0.83[EUR][1000 genomes]
rs6762374	0.88[EUR][1000 genomes]
rs6776956	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73185378	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73185389	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73187208	0.90[ASN][1000 genomes]
rs73187210	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7622600	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7645220	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178706400-178718600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:178707000-178718800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:178708400-178718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:178708600-178726200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:178708800-178737800	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:178709200-178724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:178709400-178721600	Weak transcription	Primary B cells from cord blood	blood
8	chr3:178709600-178724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:178711800-178722600	Weak transcription	Gastric	stomach
10	chr3:178712400-178719200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:178713000-178719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:178713000-178723000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:178713200-178718400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:178713200-178718400	Weak transcription	Primary T cells from cord blood	blood
15	chr3:178713200-178725000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:178715200-178718600	Weak transcription	HSMMtube	muscle
17	chr3:178715200-178721800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:178715400-178718400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:178715800-178718600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:178715800-178718600	Weak transcription	Aorta	Aorta
21	chr3:178715800-178718600	Weak transcription	Left Ventricle	heart
22	chr3:178715800-178723000	Strong transcription	HSMM	muscle
23	chr3:178716400-178755000	Weak transcription	Pancreas	Pancrea
24	chr3:178716600-178718600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:178716800-178718600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:178716800-178720800	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:178717000-178720600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:178717400-178744400	Weak transcription	HMEC	breast
29	chr3:178717800-178718600	Enhancers	Osteobl	bone
30	chr3:178717800-178719000	Enhancers	GM12878-XiMat	blood
31	chr3:178717800-178722800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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