Variant report

Variant	rs4346776
Chromosome Location	chr5:42510659-42510660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42509548..42511096-chr5:42511599..42513117,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11949415	1.00[AMR][1000 genomes]
rs11954925	1.00[AMR][1000 genomes]
rs1509459	1.00[AMR][1000 genomes]
rs16872562	1.00[AMR][1000 genomes]
rs16872586	1.00[AMR][1000 genomes]
rs6871782	1.00[AMR][1000 genomes]
rs6878694	1.00[AMR][1000 genomes]
rs6885346	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7702407	1.00[AMR][1000 genomes]
rs7702961	1.00[AMR][1000 genomes]
rs7709329	1.00[AMR][1000 genomes]
rs7718944	1.00[AMR][1000 genomes]
rs7726811	1.00[AMR][1000 genomes]
rs7730534	1.00[AMR][1000 genomes]
rs7731927	1.00[AMR][1000 genomes]
rs7737776	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42498600-42514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:42508000-42516600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:42508200-42511400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr5:42508200-42514200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:42508200-42515200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:42508400-42513600	Weak transcription	Left Ventricle	heart
7	chr5:42508400-42514200	Weak transcription	Right Atrium	heart
8	chr5:42508400-42514600	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:42508400-42514800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:42508600-42514600	Weak transcription	Adipose Nuclei	Adipose
11	chr5:42509000-42511000	Enhancers	Ovary	ovary
12	chr5:42509400-42510800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:42509600-42516600	Weak transcription	Fetal Stomach	stomach
14	chr5:42509800-42510800	Weak transcription	Psoas Muscle	Psoas
15	chr5:42509800-42511200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:42509800-42511200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:42509800-42513200	Weak transcription	Fetal Lung	lung
18	chr5:42510200-42512000	Weak transcription	Liver	Liver
19	chr5:42510400-42511200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:42510400-42516400	Weak transcription	Right Ventricle	heart
21	chr5:42510600-42514200	Weak transcription	Fetal Heart	heart

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