Variant report

Variant	rs62043337
Chromosome Location	chr16:79754318-79754319
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16951122	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62043299	0.86[ASN][1000 genomes]
rs62043300	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62043301	0.86[ASN][1000 genomes]
rs62043302	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043303	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043304	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043305	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043306	0.85[ASN][1000 genomes]
rs62043307	0.85[ASN][1000 genomes]
rs62043308	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62043309	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043310	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62043311	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043312	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043314	0.88[ASN][1000 genomes]
rs62043315	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043316	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62043317	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62043319	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62043336	0.96[ASN][1000 genomes]
rs62043338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:25 , 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	chr16:79749000-79754800	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:79749800-79754400	Weak transcription	Liver	Liver
6	chr16:79749800-79754800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:79749800-79756400	Weak transcription	Stomach Mucosa	stomach
8	chr16:79750800-79754600	Weak transcription	Ovary	ovary
9	chr16:79751000-79755200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:79751600-79755400	Weak transcription	Aorta	Aorta
11	chr16:79751600-79755800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:79752000-79755200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:79752000-79755600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr16:79752000-79755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:79752000-79756000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:79752000-79757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:79752200-79754400	Weak transcription	Fetal Kidney	kidney
18	chr16:79752200-79754600	Weak transcription	Fetal Lung	lung
19	chr16:79752200-79755200	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:79752200-79756400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:79752400-79757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:79752800-79757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:79754000-79754400	Enhancers	Small Intestine	intestine
24	chr16:79754000-79759600	Enhancers	Duodenum Mucosa	Duodenum
25	chr16:79754200-79754400	Enhancers	Rectal Mucosa Donor 31	rectum

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