Variant report

Variant	nsv522062
Chromosome Location	chr5:16670618-16679966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16670338..16672249-chr5:16672358..16674195,2	MCF-7	breast:
2	chr5:16588605..16589500-chr5:16674971..16675555,2	MCF-7	breast:
3	chr5:16670338..16672249-chr5:16672358..16674195,2	MCF-7	breast:
4	chr5:16679668..16680619-chr5:16776494..16777357,4	MCF-7	breast:
5	chr5:16588416..16589500-chr5:16674631..16675555,5	MCF-7	breast:
6	chr1:9356327..9359278-chr5:16672338..16674681,2	MCF-7	breast:
7	chr5:16679346..16680168-chr5:17203570..17204157,2	MCF-7	breast:

Extended variants
information (count: 515 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs27431	chr5:16670618-16670619	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377678446	chr5:16670624-16670625	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371241992	chr5:16670653-16670654	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148742178	chr5:16670681-16670682	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555577918	chr5:16670688-16670689	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567402631	chr5:16670694-16670695	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535133241	chr5:16670695-16670696	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377732281	chr5:16670700-16670701	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370105389	chr5:16670744-16670745	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142299576	chr5:16670755-16670756	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374423758	chr5:16670756-16670757	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147905272	chr5:16670757-16670758	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202019610	chr5:16670764-16670765	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545077121	chr5:16670765-16670766	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557219583	chr5:16670776-16670777	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370880836	chr5:16670788-16670789	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374268245	chr5:16670803-16670804	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542821073	chr5:16670810-16670811	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561035599	chr5:16670819-16670820	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528311011	chr5:16670820-16670821	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540289135	chr5:16670849-16670850	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368470812	chr5:16670857-16670858	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371933281	chr5:16670858-16670859	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564832156	chr5:16670859-16670860	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61744167	chr5:16670863-16670864	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532130077	chr5:16670873-16670874	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553088098	chr5:16670876-16670877	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554253862	chr5:16670903-16670904	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563993750	chr5:16670930-16670931	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531137935	chr5:16670931-16670932	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375299552	chr5:16670949-16670950	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201810628	chr5:16670954-16670955	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567489277	chr5:16670964-16670965	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371334940	chr5:16670982-16670983	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375936856	chr5:16670983-16670984	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185125645	chr5:16670988-16670989	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373476309	chr5:16671034-16671035	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376842819	chr5:16671049-16671050	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201051617	chr5:16671050-16671051	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547027348	chr5:16671051-16671052	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374196495	chr5:16671053-16671054	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189405246	chr5:16671071-16671072	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs3843822	chr5:16671073-16671074	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs575728279	chr5:16671076-16671077	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs372836613	chr5:16671099-16671100	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs371592547	chr5:16671114-16671115	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577786920	chr5:16671125-16671126	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554912189	chr5:16671136-16671137	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573027163	chr5:16671148-16671149	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540099942	chr5:16671172-16671173	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16658800-16672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:16661600-16689400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:16663000-16671400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:16663000-16674800	Weak transcription	Aorta	Aorta
6	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:16663200-16673000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:16663400-16676600	Strong transcription	A549	lung
9	chr5:16663600-16695400	Strong transcription	Fetal Intestine Small	intestine
10	chr5:16663800-16676600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr5:16663800-16690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:16663800-16694400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:16663800-16698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:16664000-16671200	Genic enhancers	Fetal Lung	lung
17	chr5:16664000-16676800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
19	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:16664600-16690600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr5:16664800-16674600	Weak transcription	Small Intestine	intestine
25	chr5:16664800-16677600	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr5:16665600-16676800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:16666200-16676800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:16666200-16680600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:16667200-16674800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:16667400-16683600	Weak transcription	Liver	Liver
32	chr5:16667600-16673800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:16667600-16676600	Strong transcription	HSMMtube	muscle
34	chr5:16667800-16672400	Weak transcription	Fetal Kidney	kidney
35	chr5:16667800-16673400	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr5:16667800-16674800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:16667800-16674800	Weak transcription	Stomach Mucosa	stomach
38	chr5:16667800-16675000	Weak transcription	Left Ventricle	heart
39	chr5:16667800-16676400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:16667800-16677400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr5:16667800-16680000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
43	chr5:16668000-16673400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:16668000-16676000	Strong transcription	Brain Hippocampus Middle	brain
45	chr5:16668200-16676400	Strong transcription	Placenta	Placenta
46	chr5:16668600-16672800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:16668800-16670800	Weak transcription	Spleen	Spleen
48	chr5:16669000-16670800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:16669200-16671200	Weak transcription	Hela-S3	cervix
50	chr5:16669200-16672800	Weak transcription	Fetal Thymus	thymus

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