Variant report

Variant	rs34798456
Chromosome Location	chr5:111743542-111743543
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111738869..111741443-chr5:111742912..111745880,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17134503	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4958046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111709200-111745400	Weak transcription	Esophagus	oesophagus
2	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:111732600-111747600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:111732600-111749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:111736000-111747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:111738400-111752400	Weak transcription	Fetal Brain Female	brain
11	chr5:111740400-111751400	Weak transcription	Ovary	ovary
12	chr5:111742200-111743800	Enhancers	Fetal Lung	lung
13	chr5:111742400-111743600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:111742400-111743800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:111742600-111743600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:111742600-111743600	Enhancers	Brain Substantia Nigra	brain
17	chr5:111742600-111743600	Enhancers	HUVEC	blood vessel
18	chr5:111742600-111743800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:111742800-111743600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:111742800-111743600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:111742800-111744200	Enhancers	Fetal Heart	heart
22	chr5:111742800-111744200	Enhancers	Hela-S3	cervix
23	chr5:111742800-111745400	Weak transcription	Spleen	Spleen
24	chr5:111742800-111745600	Weak transcription	Gastric	stomach
25	chr5:111742800-111745600	Weak transcription	Lung	lung
26	chr5:111742800-111746400	Weak transcription	Left Ventricle	heart
27	chr5:111742800-111747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:111743000-111743600	Enhancers	Brain Anterior Caudate	brain
29	chr5:111743000-111743600	Enhancers	Colon Smooth Muscle	Colon
30	chr5:111743000-111747600	Weak transcription	Fetal Kidney	kidney
31	chr5:111743200-111745800	Weak transcription	Right Ventricle	heart
32	chr5:111743200-111746800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:111743200-111747400	Weak transcription	Pancreas	Pancrea
34	chr5:111743200-111747400	Weak transcription	Right Atrium	heart
35	chr5:111743200-111747600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:111743200-111747600	Weak transcription	Adipose Nuclei	Adipose
37	chr5:111743200-111747800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:111743200-111753400	Weak transcription	Placenta	Placenta
39	chr5:111743400-111743600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:111743400-111743600	Enhancers	Aorta	Aorta
41	chr5:111743400-111747400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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