Variant report

Variant	rs73214251
Chromosome Location	chr5:111724386-111724387
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57316195	1.00[AFR][1000 genomes]
rs59211658	1.00[AFR][1000 genomes]
rs73214244	1.00[AFR][1000 genomes]
rs73214262	1.00[AFR][1000 genomes]
rs73214267	1.00[AFR][1000 genomes]
rs73222149	1.00[AFR][1000 genomes]
rs73222169	1.00[AFR][1000 genomes]
rs73223867	1.00[AFR][1000 genomes]
rs73225753	1.00[AFR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111704400-111726000	Weak transcription	Lung	lung
2	chr5:111707400-111726000	Weak transcription	Pancreas	Pancrea
3	chr5:111708400-111725600	Weak transcription	Fetal Brain Male	brain
4	chr5:111709200-111725600	Weak transcription	Psoas Muscle	Psoas
5	chr5:111709200-111745400	Weak transcription	Esophagus	oesophagus
6	chr5:111715800-111732200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:111717000-111732200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:111717600-111735000	Weak transcription	Right Ventricle	heart
9	chr5:111720400-111742800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:111720800-111732200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:111720800-111732200	Weak transcription	Spleen	Spleen
12	chr5:111722400-111724600	Enhancers	Fetal Heart	heart
13	chr5:111723600-111724400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:111723600-111724400	Enhancers	Left Ventricle	heart
15	chr5:111723600-111724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:111723800-111724400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:111723800-111724400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:111723800-111724400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:111723800-111724600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:111723800-111724600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:111723800-111724800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:111723800-111724800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:111723800-111725000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:111723800-111725800	Enhancers	Fetal Kidney	kidney
25	chr5:111724000-111724400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:111724000-111724400	Enhancers	Right Atrium	heart
27	chr5:111724000-111724600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:111724200-111724400	Enhancers	Gastric	stomach
29	chr5:111724200-111724600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:111724200-111724800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:111724200-111725600	Enhancers	Adipose Nuclei	Adipose
32	chr5:111724200-111726000	Weak transcription	NHEK	skin

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