Variant report

Variant	rs73343405
Chromosome Location	chr5:179701341-179701342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179700884..179702709-chr5:179716441..179719265,2	MCF-7	breast:
2	chr5:179698936..179702470-chr5:179704973..179707068,4	MCF-7	breast:
3	chr5:179497902..179499862-chr5:179700119..179702534,2	K562	blood:
4	chr5:179699592..179702150-chr5:179709663..179711352,2	K562	blood:
5	chr5:179691444..179693409-chr5:179700138..179702183,2	K562	blood:

Variant related genes	Relation type
ENSG00000050748	Chromatin interaction
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28578757	1.00[AMR][1000 genomes]
rs56325540	1.00[AMR][1000 genomes]
rs73343419	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73355930	1.00[AMR][1000 genomes]
rs73810998	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
3	chr5:179656600-179703000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr5:179660800-179706800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:179673600-179701800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr5:179673600-179705400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:179677000-179703000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:179681800-179705600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179691200-179706200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:179692800-179705000	Weak transcription	Stomach Mucosa	stomach
12	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:179693800-179709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:179694200-179701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:179694200-179702200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:179694200-179702400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:179694200-179702800	Weak transcription	Hela-S3	cervix
18	chr5:179694400-179701400	Weak transcription	Brain Germinal Matrix	brain
19	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
20	chr5:179695400-179702200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:179695400-179704200	Weak transcription	HepG2	liver
22	chr5:179695600-179704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:179695800-179706200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:179696200-179701400	Weak transcription	Fetal Stomach	stomach
25	chr5:179696200-179704200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:179696400-179714800	Weak transcription	Fetal Brain Male	brain
27	chr5:179696600-179701800	Weak transcription	Fetal Heart	heart
28	chr5:179696800-179702200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:179697000-179701400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:179697200-179702600	Weak transcription	Brain Anterior Caudate	brain
31	chr5:179697200-179704000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:179697600-179703000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr5:179697600-179710800	Strong transcription	Placenta	Placenta
34	chr5:179698200-179702600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:179698200-179703000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr5:179698400-179702800	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr5:179698400-179703000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:179698400-179703200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr5:179698400-179703200	ZNF genes & repeats	A549	lung
40	chr5:179698400-179710200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:179698400-179710400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr5:179698600-179701400	Weak transcription	Psoas Muscle	Psoas
43	chr5:179698800-179703000	ZNF genes & repeats	Aorta	Aorta
44	chr5:179699000-179701600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr5:179699000-179701800	ZNF genes & repeats	Left Ventricle	heart
46	chr5:179699000-179701800	ZNF genes & repeats	Pancreas	Pancrea
47	chr5:179699000-179701800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
48	chr5:179699000-179702600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr5:179699000-179702800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:179699000-179702800	ZNF genes & repeats	Esophagus	oesophagus

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