Variant report

Variant	rs13094954
Chromosome Location	chr3:178712845-178712846
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:178708964..178712566-chr3:178712795..178715192,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11720081	0.90[ASN][1000 genomes]
rs13072825	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092881	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4280676	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4315724	1.00[ASN][1000 genomes]
rs4501160	0.81[ASN][1000 genomes]
rs4505756	1.00[ASN][1000 genomes]
rs4626139	1.00[ASN][1000 genomes]
rs4955796	1.00[ASN][1000 genomes]
rs6443611	0.95[ASN][1000 genomes]
rs7429173	1.00[ASN][1000 genomes]
rs7651510	0.81[ASN][1000 genomes]
rs7652668	1.00[ASN][1000 genomes]
rs7652946	1.00[ASN][1000 genomes]
rs9879637	0.81[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:23 , 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	chr3:178708400-178715000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:178708400-178715000	Weak transcription	Aorta	Aorta
5	chr3:178708400-178718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:178708600-178726200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:178708800-178713000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:178708800-178737800	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:178709000-178713200	Strong transcription	Primary T cells from cord blood	blood
10	chr3:178709200-178724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:178709400-178713200	Strong transcription	HSMM	muscle
12	chr3:178709400-178714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:178709400-178721600	Weak transcription	Primary B cells from cord blood	blood
14	chr3:178709600-178724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:178710000-178715000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:178710200-178715000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:178711400-178717800	Weak transcription	GM12878-XiMat	blood
18	chr3:178711600-178713200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:178711800-178722600	Weak transcription	Gastric	stomach
20	chr3:178712400-178714400	Weak transcription	HSMMtube	muscle
21	chr3:178712400-178719200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:178712600-178714600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:178712800-178713200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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