Variant report

Variant	rs4425305
Chromosome Location	chr3:178718863-178718864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10804875	0.89[EUR][1000 genomes]
rs11711320	1.00[ASN][1000 genomes]
rs4245914	1.00[ASN][1000 genomes]
rs4254707	0.90[EUR][1000 genomes]
rs4279147	0.94[ASN][1000 genomes]
rs4325967	0.83[ASN][1000 genomes]
rs4328857	0.89[EUR][1000 genomes]
rs4377525	1.00[ASN][1000 genomes]
rs4395442	1.00[ASN][1000 genomes]
rs4417911	1.00[ASN][1000 genomes]
rs4469018	0.88[ASN][1000 genomes]
rs4552405	1.00[ASN][1000 genomes]
rs4579062	0.88[ASN][1000 genomes]
rs4583702	0.90[EUR][1000 genomes]
rs4607155	0.88[ASN][1000 genomes]
rs4632588	0.86[ASN][1000 genomes]
rs4637331	0.88[ASN][1000 genomes]
rs4955797	0.90[EUR][1000 genomes]
rs4955799	0.90[EUR][1000 genomes]
rs4955807	0.88[ASN][1000 genomes]
rs4955810	0.88[ASN][1000 genomes]
rs56115013	1.00[ASN][1000 genomes]
rs6443614	1.00[ASN][1000 genomes]
rs6443617	0.83[ASN][1000 genomes]
rs6761999	0.90[EUR][1000 genomes]
rs6772028	0.88[ASN][1000 genomes]
rs6778195	0.87[EUR][1000 genomes]
rs6790867	0.88[ASN][1000 genomes]
rs6793769	1.00[ASN][1000 genomes]
rs6793893	0.88[ASN][1000 genomes]
rs6794243	0.90[EUR][1000 genomes]
rs6794956	0.88[ASN][1000 genomes]
rs6795238	0.88[ASN][1000 genomes]
rs6800015	0.81[ASN][1000 genomes]
rs7612363	1.00[ASN][1000 genomes]
rs7639391	0.88[ASN][1000 genomes]
rs9815772	0.90[EUR][1000 genomes]
rs9816837	0.90[EUR][1000 genomes]
rs9832291	0.84[EUR][1000 genomes]
rs9835765	0.88[ASN][1000 genomes]
rs9841497	0.89[EUR][1000 genomes]
rs9860318	0.91[ASN][1000 genomes]
rs9860749	0.91[ASN][1000 genomes]
rs9862902	0.90[EUR][1000 genomes]
rs9871126	0.90[EUR][1000 genomes]
rs9878734	0.91[ASN][1000 genomes]
rs9880749	0.88[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4425305	KCNMB3,LRRFIP1,KCNMB3L	cis	temporal cortex	BrainEAC

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178708600-178726200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:178708800-178737800	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:178709200-178724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:178709400-178721600	Weak transcription	Primary B cells from cord blood	blood
5	chr3:178709600-178724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:178711800-178722600	Weak transcription	Gastric	stomach
7	chr3:178712400-178719200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:178713000-178719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:178713000-178723000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:178713200-178725000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:178715200-178721800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:178715800-178723000	Strong transcription	HSMM	muscle
13	chr3:178716400-178755000	Weak transcription	Pancreas	Pancrea
14	chr3:178716800-178720800	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:178717000-178720600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:178717400-178744400	Weak transcription	HMEC	breast
17	chr3:178717800-178719000	Enhancers	GM12878-XiMat	blood
18	chr3:178717800-178722800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:178718400-178719200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:178718400-178719600	Strong transcription	Primary T cells from cord blood	blood
21	chr3:178718600-178719000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:178718600-178719000	Strong transcription	Aorta	Aorta
23	chr3:178718600-178719200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:178718600-178719200	ZNF genes & repeats	Lung	lung
25	chr3:178718600-178719600	Strong transcription	Left Ventricle	heart
26	chr3:178718600-178719800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:178718600-178720000	Strong transcription	HSMMtube	muscle
28	chr3:178718600-178720200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr3:178718600-178720200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:178718600-178722600	Weak transcription	Osteobl	bone
31	chr3:178718800-178719000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:178718800-178719000	ZNF genes & repeats	Spleen	Spleen
33	chr3:178718800-178719400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:178718800-178720400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:178718800-178724400	Weak transcription	NHLF	lung

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