Variant report

Variant	rs4386830
Chromosome Location	chr6:141787794-141787795
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:14)

rs_ID	r²[population]
rs10872536	0.88[EUR][1000 genomes]
rs11155185	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11751835	0.88[EUR][1000 genomes]
rs12525079	0.85[EUR][1000 genomes]
rs4472370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6905051	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8180607	0.87[EUR][1000 genomes]
rs9373311	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373314	0.89[EUR][1000 genomes]
rs9376628	0.87[EUR][1000 genomes]
rs9389927	0.88[EUR][1000 genomes]
rs9389929	0.88[EUR][1000 genomes]
rs9403308	0.86[EUR][1000 genomes]
rs9403314	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019459	chr6:141051249-141862727	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538453	chr6:141051249-141862727	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532070	chr6:141057326-141865359	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1025922	chr6:141090901-141865360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv538454	chr6:141090901-141865360	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1029550	chr6:141372610-142029669	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv886727	chr6:141610933-141793547	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1015835	chr6:141713451-142233317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv538455	chr6:141713451-142233317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv2755719	chr6:141721907-142123546	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141781800-141788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:141782800-141788000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:141782800-141790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:141782800-141791400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:141784000-141788000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:141784000-141788400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:141785000-141789200	Weak transcription	Aorta	Aorta
8	chr6:141785400-141787800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:141785400-141788600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:141786000-141788000	Weak transcription	Adipose Nuclei	Adipose
11	chr6:141786200-141791400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:141786400-141787800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:141786400-141788200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:141786400-141789200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:141786600-141788200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:141786600-141788200	Weak transcription	Osteobl	bone
17	chr6:141786600-141796400	Weak transcription	HSMM	muscle
18	chr6:141787400-141787800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:141787400-141787800	Enhancers	Psoas Muscle	Psoas
20	chr6:141787400-141787800	Enhancers	Right Ventricle	heart
21	chr6:141787400-141789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:141787600-141788200	Weak transcription	Left Ventricle	heart
23	chr6:141787600-141788400	Enhancers	Right Atrium	heart
24	chr6:141787600-141788600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:141787600-141788800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:141787600-141789600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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