Variant report

Variant	rs62043339
Chromosome Location	chr16:79755054-79755055
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs4511553	1.00[AFR][1000 genomes]
rs62042361	1.00[AFR][1000 genomes]
rs62042363	1.00[AFR][1000 genomes]
rs62042364	1.00[AFR][1000 genomes]
rs62042365	1.00[AFR][1000 genomes]
rs62042366	1.00[AFR][1000 genomes]
rs62042403	1.00[AFR][1000 genomes]
rs62042404	1.00[AFR][1000 genomes]
rs62042405	1.00[AFR][1000 genomes]
rs62042406	1.00[AFR][1000 genomes]
rs62042407	1.00[AFR][1000 genomes]
rs62042408	1.00[AFR][1000 genomes]
rs62042410	1.00[AFR][1000 genomes]
rs62042411	1.00[AFR][1000 genomes]
rs62042412	1.00[AFR][1000 genomes]
rs62042414	1.00[AFR][1000 genomes]
rs62042415	1.00[AFR][1000 genomes]
rs62042430	1.00[AFR][1000 genomes]
rs62043294	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62043295	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62043296	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62043297	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62043298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62043299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62043301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62043306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62043307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62043314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62043336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3405164	chr16:79754351-79759149	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79748000-79756200	Weak transcription	Gastric	stomach
2	chr16:79748200-79760400	Enhancers	Fetal Intestine Small	intestine
3	chr16:79748400-79760800	Enhancers	Fetal Intestine Large	intestine
4	chr16:79749800-79756400	Weak transcription	Stomach Mucosa	stomach
5	chr16:79751000-79755200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:79751600-79755400	Weak transcription	Aorta	Aorta
7	chr16:79751600-79755800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:79752000-79755200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:79752000-79755600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:79752000-79755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:79752000-79756000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:79752000-79757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:79752200-79755200	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:79752200-79756400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:79752400-79757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:79752800-79757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:79754000-79759600	Enhancers	Duodenum Mucosa	Duodenum
18	chr16:79754400-79756200	Enhancers	Liver	Liver
19	chr16:79754400-79756600	Enhancers	Fetal Kidney	kidney
20	chr16:79754600-79756000	Enhancers	Fetal Lung	lung
21	chr16:79754600-79756800	Enhancers	Ovary	ovary
22	chr16:79754800-79755800	Enhancers	Rectal Smooth Muscle	rectum
23	chr16:79754800-79756000	Enhancers	Fetal Stomach	stomach
24	chr16:79754800-79756000	Enhancers	Stomach Smooth Muscle	stomach
25	chr16:79754800-79756200	Enhancers	Colon Smooth Muscle	Colon
26	chr16:79754800-79756600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr16:79755000-79755400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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