Variant report

Variant	rs73784324
Chromosome Location	chr5:116075317-116075318
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57438420	0.83[AFR][1000 genomes]
rs58088942	0.83[AFR][1000 genomes]
rs73783818	0.94[AFR][1000 genomes]
rs73783852	0.94[AFR][1000 genomes]
rs73783857	1.00[AFR][1000 genomes]
rs73784331	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	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	chr5:116068400-116076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:116070600-116076200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:116070600-116076600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:116073200-116075400	Enhancers	Colon Smooth Muscle	Colon
5	chr5:116073200-116075400	Enhancers	Fetal Brain Female	brain
6	chr5:116073200-116075800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:116073200-116075800	Enhancers	Fetal Brain Male	brain
8	chr5:116073200-116075800	Enhancers	Fetal Stomach	stomach
9	chr5:116073400-116076200	Enhancers	Lung	lung
10	chr5:116073800-116075600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:116073800-116076400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:116074000-116075400	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:116074000-116075600	Enhancers	Left Ventricle	heart
14	chr5:116074000-116075600	Enhancers	Right Atrium	heart
15	chr5:116074000-116076400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:116074200-116076200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr5:116074200-116076400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:116074400-116075400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:116074400-116075800	Enhancers	Brain Substantia Nigra	brain
20	chr5:116074400-116076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:116074600-116075600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:116074600-116076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:116074600-116076000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:116074600-116076200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:116074800-116075400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:116074800-116075400	Enhancers	Psoas Muscle	Psoas
27	chr5:116074800-116075600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:116074800-116075600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr5:116075000-116075600	Active TSS	Ovary	ovary
30	chr5:116075000-116075600	Active TSS	Stomach Smooth Muscle	stomach
31	chr5:116075000-116075800	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr5:116075000-116076000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:116075000-116076000	Weak transcription	Spleen	Spleen
34	chr5:116075200-116075400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr5:116075200-116075400	Bivalent Enhancer	HepG2	liver
36	chr5:116075200-116075600	Flanking Active TSS	Fetal Lung	lung
37	chr5:116075200-116075600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr5:116075200-116075600	Flanking Active TSS	HSMM	muscle
39	chr5:116075200-116075600	Flanking Active TSS	HSMMtube	muscle
40	chr5:116075200-116075800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:116075200-116075800	Flanking Active TSS	Fetal Muscle Trunk	muscle

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