Variant report

Variant	nsv600485
Chromosome Location	chr5:178350387-178352820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7712073	chr5:178350387-178350388	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186853514	chr5:178350388-178350389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7711064	chr5:178350403-178350404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573503778	chr5:178350424-178350425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190149185	chr5:178350463-178350464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76443732	chr5:178350479-178350480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151131795	chr5:178350484-178350485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577233128	chr5:178350552-178350553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544738890	chr5:178350564-178350565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10434802	chr5:178350596-178350597	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114143704	chr5:178350619-178350620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545642310	chr5:178350628-178350629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542093502	chr5:178350663-178350664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554377420	chr5:178350669-178350670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560443594	chr5:178350689-178350690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559182319	chr5:178350723-178350724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79424917	chr5:178350761-178350762	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77269975	chr5:178350762-178350763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527602457	chr5:178350767-178350768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575762878	chr5:178350777-178350778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552118946	chr5:178350816-178350817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182791248	chr5:178350852-178350853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140242320	chr5:178350965-178350966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531368347	chr5:178351023-178351024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145527358	chr5:178351053-178351054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567852414	chr5:178351080-178351081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536443991	chr5:178351081-178351082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543177924	chr5:178351089-178351090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35869073	chr5:178351093-178351094	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138150376	chr5:178351122-178351123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142543918	chr5:178351146-178351147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150151284	chr5:178351156-178351157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577145941	chr5:178351170-178351171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544658903	chr5:178351199-178351200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556691613	chr5:178351201-178351202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542208044	chr5:178351215-178351216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377068513	chr5:178351251-178351252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542005477	chr5:178351263-178351264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138800665	chr5:178351268-178351269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527555532	chr5:178351301-178351302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62395089	chr5:178351322-178351323	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13176673	chr5:178351327-178351328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564442311	chr5:178351351-178351352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13153237	chr5:178351367-178351368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13153239	chr5:178351371-178351372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11292713	chr5:178351374-178351375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35058393	chr5:178351389-178351390	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573093645	chr5:178351390-178351391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13172626	chr5:178351391-178351392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531195728	chr5:178351401-178351402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178335800-178367000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr5:178341600-178367000	ZNF genes & repeats	Fetal Brain Female	brain
3	chr5:178343000-178367200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr5:178346400-178351000	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr5:178347800-178350400	ZNF genes & repeats	Brain Anterior Caudate	brain
6	chr5:178347800-178350400	ZNF genes & repeats	Brain Substantia Nigra	brain
7	chr5:178347800-178352400	ZNF genes & repeats	Fetal Lung	lung
8	chr5:178347800-178366800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr5:178347800-178367400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:178348000-178350400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
11	chr5:178348000-178359800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:178348000-178360200	ZNF genes & repeats	Left Ventricle	heart
13	chr5:178348600-178352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:178348800-178352200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:178348800-178357800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:178349400-178350600	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr5:178349800-178352200	Weak transcription	Brain Angular Gyrus	brain
18	chr5:178350200-178350400	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr5:178350200-178350600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr5:178350200-178350800	ZNF genes & repeats	Fetal Stomach	stomach
21	chr5:178351400-178367400	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr5:178351600-178352600	ZNF genes & repeats	Pancreas	Pancrea
23	chr5:178351600-178359600	ZNF genes & repeats	Aorta	Aorta
24	chr5:178352200-178352600	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr5:178352200-178352600	ZNF genes & repeats	Fetal Heart	heart
26	chr5:178352200-178359200	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr5:178352200-178363200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
28	chr5:178352200-178366800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr5:178352200-178367200	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr5:178352400-178352800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
31	chr5:178352400-178352800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr5:178352400-178352800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
33	chr5:178352400-178354400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:178352400-178360200	ZNF genes & repeats	Ovary	ovary
35	chr5:178352400-178369200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:178352600-178352800	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr5:178352600-178353800	Weak transcription	Brain Angular Gyrus	brain
38	chr5:178352600-178353800	Weak transcription	Pancreas	Pancrea
39	chr5:178352600-178357000	Weak transcription	Fetal Heart	heart
40	chr5:178352800-178353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:178352800-178353800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:178352800-178354200	ZNF genes & repeats	Fetal Intestine Large	intestine

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