Variant report

Variant	rs61649363
Chromosome Location	chr5:16706245-16706246
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs256934	1.00[AMR][1000 genomes]
rs256936	1.00[AMR][1000 genomes]
rs27369	1.00[AMR][1000 genomes]
rs3188408	1.00[AMR][1000 genomes]
rs56331036	1.00[AMR][1000 genomes]
rs57469405	1.00[AMR][1000 genomes]
rs58091496	1.00[AMR][1000 genomes]
rs58336311	1.00[AMR][1000 genomes]
rs58840252	1.00[AMR][1000 genomes]
rs61252560	1.00[AMR][1000 genomes]
rs73051043	1.00[AMR][1000 genomes]
rs73051047	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051049	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv4737	chr5:16681166-16707357	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
4	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
5	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
6	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:16683800-16707200	Weak transcription	Liver	Liver
8	chr5:16686000-16708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
11	chr5:16689800-16710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:16690400-16707400	Weak transcription	Hela-S3	cervix
14	chr5:16695000-16710600	Weak transcription	Stomach Mucosa	stomach
15	chr5:16697200-16711600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:16697400-16711200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr5:16697400-16711400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:16697800-16711400	Strong transcription	HMEC	breast
19	chr5:16698000-16711400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:16698000-16711400	Strong transcription	Osteobl	bone
21	chr5:16698200-16711400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr5:16698400-16707400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:16699000-16711400	Strong transcription	Ovary	ovary
24	chr5:16699000-16711400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:16699200-16711400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:16701400-16709200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:16701400-16711200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:16701600-16707400	Weak transcription	Right Atrium	heart
29	chr5:16701800-16708600	Weak transcription	Aorta	Aorta
30	chr5:16701800-16709000	Weak transcription	Colonic Mucosa	Colon
31	chr5:16701800-16709200	Weak transcription	Spleen	Spleen
32	chr5:16701800-16709400	Weak transcription	Esophagus	oesophagus
33	chr5:16701800-16711000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:16701800-16711600	Strong transcription	Fetal Intestine Large	intestine
35	chr5:16701800-16713400	Weak transcription	Right Ventricle	heart
36	chr5:16702000-16709200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:16702000-16711400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:16702200-16706600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:16702200-16706600	Weak transcription	NHDF-Ad	bronchial
40	chr5:16702200-16709600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:16702400-16706600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:16702400-16707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:16702400-16710800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:16702600-16707000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:16702600-16711400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:16702600-16711600	Strong transcription	HSMM	muscle
47	chr5:16702800-16708800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:16703000-16707000	Weak transcription	Lung	lung
49	chr5:16703400-16706800	Genic enhancers	HUVEC	blood vessel
50	chr5:16703400-16709200	Weak transcription	Fetal Kidney	kidney

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