Variant report

Variant	rs34975809
Chromosome Location	chr5:42508593-42508594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42507143..42509893-chr5:42561185..42563258,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13154521	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13156541	0.87[EUR][1000 genomes]
rs13168764	1.00[ASN][1000 genomes]
rs13184352	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188386	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17574616	0.87[EUR][1000 genomes]
rs17636762	0.87[EUR][1000 genomes]
rs28943880	1.00[ASN][1000 genomes]
rs33939197	1.00[ASN][1000 genomes]
rs35003055	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35185573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35418208	0.87[EUR][1000 genomes]
rs35500216	0.99[EUR][1000 genomes]
rs35525634	1.00[ASN][1000 genomes]
rs35920615	1.00[ASN][1000 genomes]
rs4129472	1.00[ASN][1000 genomes]
rs4129645	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365846	0.80[EUR][1000 genomes]
rs4368736	0.80[EUR][1000 genomes]
rs4395642	0.80[EUR][1000 genomes]
rs56144821	1.00[ASN][1000 genomes]
rs56781446	0.87[EUR][1000 genomes]
rs61043035	0.87[EUR][1000 genomes]
rs67005744	1.00[ASN][1000 genomes]
rs67277863	1.00[ASN][1000 genomes]
rs67812331	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863381	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9763260	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:24 , 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	chr5:42503600-42510200	Enhancers	Liver	Liver
3	chr5:42507000-42508600	Enhancers	Fetal Stomach	stomach
4	chr5:42507400-42508600	Enhancers	Fetal Heart	heart
5	chr5:42507600-42508600	Enhancers	Adipose Nuclei	Adipose
6	chr5:42507600-42508600	Enhancers	Ovary	ovary
7	chr5:42508000-42509200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:42508000-42510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:42508000-42516600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:42508200-42509400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:42508200-42511400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:42508200-42514200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42508200-42515200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:42508400-42509200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:42508400-42509400	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:42508400-42509400	Weak transcription	Psoas Muscle	Psoas
17	chr5:42508400-42509400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:42508400-42509600	Weak transcription	Right Ventricle	heart
19	chr5:42508400-42509800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:42508400-42509800	Enhancers	Fetal Lung	lung
21	chr5:42508400-42513600	Weak transcription	Left Ventricle	heart
22	chr5:42508400-42514200	Weak transcription	Right Atrium	heart
23	chr5:42508400-42514600	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:42508400-42514800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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