Variant report

Variant	rs73320495
Chromosome Location	chr17:45375936-45375937
allele	A/G
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	chr17:45373564..45376277-chr17:45383806..45386110,2	K562	blood:
3	chr17:45368833..45371722-chr17:45375915..45378676,2	MCF-7	breast:

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]
rs73320498	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
2	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
3	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:45370000-45376600	Weak transcription	Pancreas	Pancrea
6	chr17:45370000-45378000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:45371000-45377200	Weak transcription	Fetal Heart	heart
8	chr17:45371400-45393000	Weak transcription	Dnd41	blood
9	chr17:45372400-45376600	Weak transcription	Fetal Intestine Small	intestine
10	chr17:45372400-45383600	Weak transcription	Gastric	stomach
11	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
12	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:45372600-45376600	Weak transcription	Liver	Liver
15	chr17:45372600-45377200	Weak transcription	NHDF-Ad	bronchial
16	chr17:45372800-45376600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:45372800-45377600	Weak transcription	Osteobl	bone
18	chr17:45372800-45377800	Weak transcription	HUVEC	blood vessel
19	chr17:45372800-45379200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:45372800-45379200	Weak transcription	Fetal Lung	lung
21	chr17:45372800-45381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:45372800-45382800	Weak transcription	Colonic Mucosa	Colon
23	chr17:45373000-45377200	Weak transcription	Left Ventricle	heart
24	chr17:45373000-45377800	Weak transcription	Ovary	ovary
25	chr17:45373000-45378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:45373000-45378000	Weak transcription	K562	blood
27	chr17:45373000-45379200	Weak transcription	NHLF	lung
28	chr17:45373400-45376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:45373400-45377200	Weak transcription	Right Ventricle	heart
30	chr17:45373400-45378000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:45373600-45376000	Weak transcription	Lung	lung
32	chr17:45373600-45376000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:45373600-45376400	Weak transcription	Placenta	Placenta
34	chr17:45373600-45376800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:45373600-45382600	Weak transcription	Spleen	Spleen
36	chr17:45374000-45376200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
38	chr17:45374200-45378400	Weak transcription	Brain Angular Gyrus	brain
39	chr17:45374400-45377200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr17:45374400-45379400	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:45374800-45376200	Enhancers	HSMM	muscle
42	chr17:45374800-45376800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr17:45375000-45376200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:45375400-45388400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr17:45375600-45376000	Weak transcription	HSMMtube	muscle
46	chr17:45375600-45381600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:45375600-45381800	Strong transcription	Colon Smooth Muscle	Colon
48	chr17:45375800-45377600	Weak transcription	Adipose Nuclei	Adipose
49	chr17:45375800-45378800	Strong transcription	Fetal Muscle Leg	muscle
50	chr17:45375800-45379800	Strong transcription	Rectal Smooth Muscle	rectum

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