Variant report

Variant	rs34318679
Chromosome Location	chr5:42493934-42493935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42491642..42494093-chr5:42621929..42623972,2	MCF-7	breast:
2	chr5:42493526..42495310-chr5:42496926..42499745,2	K562	blood:
3	chr5:42493810..42496602-chr5:42496863..42498426,2	K562	blood:
4	chr5:42483138..42485695-chr5:42492498..42494687,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13184341	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28943884	1.00[AFR][1000 genomes]
rs28943886	1.00[AFR][1000 genomes]
rs34442254	1.00[AFR][1000 genomes];0.95[EUR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42487400-42494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:42490200-42494400	Enhancers	Colon Smooth Muscle	Colon
3	chr5:42490400-42494600	Enhancers	Adipose Nuclei	Adipose
4	chr5:42490600-42499200	Weak transcription	Pancreas	Pancrea
5	chr5:42490800-42496000	Weak transcription	Psoas Muscle	Psoas
6	chr5:42490800-42499200	Weak transcription	Left Ventricle	heart
7	chr5:42491200-42494400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:42491800-42496400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:42492000-42495800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:42492000-42499200	Weak transcription	Right Atrium	heart
11	chr5:42492200-42495800	Weak transcription	HSMMtube	muscle
12	chr5:42492200-42496200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:42492200-42496600	Weak transcription	Liver	Liver
14	chr5:42492200-42499200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:42492200-42499200	Weak transcription	Ovary	ovary
16	chr5:42492400-42494000	Weak transcription	Fetal Heart	heart
17	chr5:42492400-42494400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:42492600-42495800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:42493000-42496200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:42493200-42494200	Weak transcription	NHEK	skin
21	chr5:42493200-42499800	Weak transcription	Fetal Lung	lung
22	chr5:42493400-42495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:42493600-42495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:42493800-42495800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:42493800-42496000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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