Variant report

Variant	nsv10744
Chromosome Location	chr5:115498687-115509358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 632 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568372042	chr5:115498694-115498695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536943547	chr5:115498700-115498701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113302564	chr5:115498747-115498748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576923183	chr5:115498769-115498770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183359284	chr5:115498787-115498788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185478906	chr5:115498832-115498833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150855202	chr5:115498843-115498844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139500134	chr5:115498895-115498896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561909602	chr5:115498900-115498901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144217580	chr5:115498952-115498953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113549593	chr5:115499023-115499024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140202802	chr5:115499048-115499049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10070854	chr5:115499056-115499057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551874370	chr5:115499091-115499092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79512599	chr5:115499138-115499139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58449487	chr5:115499140-115499141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190878534	chr5:115499142-115499143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528157828	chr5:115499143-115499144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547828743	chr5:115499155-115499156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111375106	chr5:115499156-115499157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537361555	chr5:115499186-115499187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550555608	chr5:115499211-115499212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570649032	chr5:115499227-115499228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554056528	chr5:115499231-115499232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7716307	chr5:115499248-115499249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78672605	chr5:115499250-115499251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573399367	chr5:115499272-115499273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535947461	chr5:115499276-115499277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555769845	chr5:115499334-115499335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575508344	chr5:115499338-115499339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544891030	chr5:115499358-115499359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564595958	chr5:115499359-115499360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145789718	chr5:115499399-115499400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76047299	chr5:115499447-115499448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560311748	chr5:115499479-115499480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369831986	chr5:115499510-115499511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183091711	chr5:115499517-115499518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547938243	chr5:115499520-115499521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57670293	chr5:115499586-115499587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544020404	chr5:115499587-115499588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530399180	chr5:115499670-115499671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550870476	chr5:115499674-115499675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570691138	chr5:115499685-115499686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188121709	chr5:115499687-115499688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546860425	chr5:115499718-115499719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143481264	chr5:115499719-115499720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7716974	chr5:115499725-115499726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555529561	chr5:115499728-115499729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569255269	chr5:115499733-115499734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7717138	chr5:115499751-115499752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115462600-115502000	Weak transcription	Fetal Intestine Large	intestine
2	chr5:115468600-115501400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:115472800-115500200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:115472800-115500400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:115484400-115510000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:115488400-115501200	Weak transcription	Psoas Muscle	Psoas
10	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
11	chr5:115489800-115528600	Weak transcription	Ovary	ovary
12	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
13	chr5:115492800-115504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:115494000-115504400	Weak transcription	Aorta	Aorta
15	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:115495200-115504600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:115495400-115500600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:115495400-115500600	Weak transcription	GM12878-XiMat	blood
21	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:115498000-115502200	Weak transcription	Fetal Stomach	stomach
23	chr5:115498400-115498800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:115498400-115500400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:115498400-115502200	Weak transcription	Fetal Intestine Small	intestine
26	chr5:115499200-115527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:115499600-115502200	Weak transcription	Lung	lung
28	chr5:115500200-115503000	Strong transcription	Primary B cells from cord blood	blood
29	chr5:115500400-115500800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:115500400-115501200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr5:115500400-115502200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:115500400-115502800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:115500600-115502800	Strong transcription	Primary T cells from cord blood	blood
34	chr5:115500800-115501600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:115501200-115501800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr5:115501200-115511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:115501400-115502200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:115501600-115501800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr5:115501600-115502400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:115501800-115502200	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:115501800-115504600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:115502000-115502200	Strong transcription	Fetal Intestine Large	intestine
43	chr5:115502200-115502400	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr5:115502200-115502400	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr5:115502200-115502400	ZNF genes & repeats	Fetal Stomach	stomach
46	chr5:115502200-115502400	ZNF genes & repeats	Lung	lung
47	chr5:115502200-115502800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:115502200-115502800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:115502200-115502800	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr5:115502200-115508800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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