Variant report

Variant	rs73320498
Chromosome Location	chr17:45378759-45378760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45369846..45373285-chr17:45374240..45379330,4	K562	blood:
2	chr17:45372166..45375464-chr17:45377689..45379653,5	K562	blood:
3	chr17:45377393..45380597-chr17:45384667..45388953,5	K562	blood:
4	chr17:45373943..45375464-chr17:45378021..45379653,2	K562	blood:
5	chr17:45377393..45379681-chr17:45383404..45387690,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs56721370	0.90[AFR][1000 genomes]
rs57044127	0.90[AFR][1000 genomes]
rs57172453	0.90[AFR][1000 genomes]
rs57180192	0.90[AFR][1000 genomes]
rs57216860	0.90[AFR][1000 genomes]
rs59392615	0.90[AFR][1000 genomes]
rs60348832	0.90[AFR][1000 genomes]
rs60444690	0.90[AFR][1000 genomes]
rs61020525	0.89[AFR][1000 genomes]
rs61274872	1.00[AFR][1000 genomes]
rs73320495	1.00[AFR][1000 genomes]
rs73322311	1.00[AFR][1000 genomes]
rs73322315	1.00[AFR][1000 genomes]
rs73322322	1.00[AFR][1000 genomes]
rs73322325	0.90[AFR][1000 genomes]
rs73322328	0.81[AFR][1000 genomes]
rs73322329	0.90[AFR][1000 genomes]
rs73322332	0.90[AFR][1000 genomes]
rs73322392	0.90[AFR][1000 genomes]
rs73322393	0.90[AFR][1000 genomes]
rs73322397	0.90[AFR][1000 genomes]
rs73322398	0.90[AFR][1000 genomes]
rs73322400	0.90[AFR][1000 genomes]
rs73324405	0.90[AFR][1000 genomes]
rs73324407	0.90[AFR][1000 genomes]
rs73324416	1.00[AFR][1000 genomes]
rs73324417	1.00[AFR][1000 genomes]
rs73324432	0.89[AFR][1000 genomes]
rs73324439	0.89[AFR][1000 genomes]
rs73324440	0.89[AFR][1000 genomes]
rs73324443	0.89[AFR][1000 genomes]
rs73324449	0.89[AFR][1000 genomes]
rs73324453	0.89[AFR][1000 genomes]
rs73324455	0.89[AFR][1000 genomes]
rs73324458	0.89[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:45371400-45393000	Weak transcription	Dnd41	blood
4	chr17:45372400-45383600	Weak transcription	Gastric	stomach
5	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
6	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:45372800-45379200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr17:45372800-45379200	Weak transcription	Fetal Lung	lung
10	chr17:45372800-45381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:45372800-45382800	Weak transcription	Colonic Mucosa	Colon
12	chr17:45373000-45379200	Weak transcription	NHLF	lung
13	chr17:45373600-45382600	Weak transcription	Spleen	Spleen
14	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
15	chr17:45374400-45379400	Weak transcription	Brain Hippocampus Middle	brain
16	chr17:45375400-45388400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr17:45375600-45381600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:45375600-45381800	Strong transcription	Colon Smooth Muscle	Colon
19	chr17:45375800-45378800	Strong transcription	Fetal Muscle Leg	muscle
20	chr17:45375800-45379800	Strong transcription	Rectal Smooth Muscle	rectum
21	chr17:45375800-45381400	Strong transcription	Aorta	Aorta
22	chr17:45375800-45382800	Strong transcription	Fetal Stomach	stomach
23	chr17:45376000-45382600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr17:45376200-45379200	Weak transcription	HSMMtube	muscle
25	chr17:45376200-45382400	Weak transcription	HSMM	muscle
26	chr17:45376200-45389200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:45376400-45381800	Strong transcription	Placenta	Placenta
28	chr17:45376600-45379000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:45376800-45381800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:45377000-45379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:45377200-45378800	Strong transcription	Right Ventricle	heart
32	chr17:45377200-45379000	Strong transcription	Fetal Heart	heart
33	chr17:45377200-45381000	Strong transcription	NHDF-Ad	bronchial
34	chr17:45377200-45381600	Strong transcription	Left Ventricle	heart
35	chr17:45377200-45383400	Weak transcription	Pancreas	Pancrea
36	chr17:45377400-45379600	Weak transcription	Liver	Liver
37	chr17:45377400-45381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:45377600-45381600	Strong transcription	Osteobl	bone
39	chr17:45377800-45380200	Strong transcription	Ovary	ovary
40	chr17:45377800-45380400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:45377800-45381200	Strong transcription	HUVEC	blood vessel
42	chr17:45378000-45378800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:45378000-45379200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr17:45378000-45379400	Enhancers	K562	blood
45	chr17:45378000-45380000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:45378200-45379000	Enhancers	Hela-S3	cervix
47	chr17:45378200-45379800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr17:45378200-45381000	Weak transcription	Fetal Intestine Large	intestine
49	chr17:45378400-45378800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:45378400-45379200	Weak transcription	Adipose Nuclei	Adipose

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