Variant report

Variant	nsv537740
Chromosome Location	chr5:43729430-43782732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43765226..43767816-chr5:43768359..43770283,2	K562	blood:
2	chr5:43727478..43730594-chr5:43737111..43740729,4	K562	blood:
3	chr5:43727751..43730594-chr5:43738009..43740289,2	K562	blood:
4	chr5:43729725..43730602-chr5:44332188..44332972,5	MCF-7	breast:
5	chr5:43727478..43730594-chr5:43737111..43740729,4	K562	blood:
6	chr5:43765226..43767816-chr5:43768359..43770283,2	K562	blood:
7	chr5:43729712..43730620-chr5:44774057..44774967,2	K562	blood:
8	chr5:43727751..43730594-chr5:43738009..43740289,2	K562	blood:

No data

Extended variants
information (count: 1645 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1645 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180703901	chr5:43729434-43729435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186348232	chr5:43729456-43729457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529768563	chr5:43729481-43729482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188854888	chr5:43729494-43729495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559130465	chr5:43729512-43729513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113232974	chr5:43729532-43729533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544867164	chr5:43729566-43729567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10036624	chr5:43729585-43729586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181216627	chr5:43729606-43729607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186222989	chr5:43729656-43729657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547133587	chr5:43729659-43729660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111736696	chr5:43729706-43729707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540537230	chr5:43729711-43729712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75534008	chr5:43729787-43729788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560816342	chr5:43729854-43729855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528110132	chr5:43729943-43729944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142715567	chr5:43730007-43730008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564684585	chr5:43730027-43730028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183967703	chr5:43730028-43730029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558379338	chr5:43730089-43730090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147345980	chr5:43730165-43730166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567311266	chr5:43730181-43730182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576912832	chr5:43730268-43730269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376115402	chr5:43730307-43730308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546608185	chr5:43730337-43730338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187240843	chr5:43730364-43730365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539078730	chr5:43730395-43730396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558990697	chr5:43730445-43730446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569377295	chr5:43730455-43730456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10078602	chr5:43730488-43730489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149901952	chr5:43730511-43730512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571752551	chr5:43730559-43730560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540806365	chr5:43730575-43730576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554207906	chr5:43730587-43730588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34134264	chr5:43730615-43730616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190818538	chr5:43730618-43730619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370717301	chr5:43730636-43730637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564497701	chr5:43730649-43730650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562702131	chr5:43730654-43730655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530532606	chr5:43730719-43730720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543941581	chr5:43730738-43730739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537072712	chr5:43730836-43730837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11737988	chr5:43730908-43730909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs529884587	chr5:43730924-43730925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542162974	chr5:43730949-43730950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182615910	chr5:43731052-43731053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560371025	chr5:43731058-43731059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527685668	chr5:43731059-43731060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34752515	chr5:43731099-43731100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374985640	chr5:43731128-43731129	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43725600-43730200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:43729800-43731400	Enhancers	Fetal Heart	heart
3	chr5:43730200-43730800	Enhancers	HSMMtube	muscle
4	chr5:43730200-43731200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:43730200-43731200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:43730400-43730800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:43730400-43730800	Enhancers	Adipose Nuclei	Adipose
8	chr5:43730400-43731000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:43730400-43731000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:43730400-43731000	Enhancers	HSMM	muscle
11	chr5:43730400-43731200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:43730400-43731200	Enhancers	Fetal Lung	lung
13	chr5:43730600-43732200	Enhancers	Stomach Mucosa	stomach
14	chr5:43731400-43732400	Weak transcription	Fetal Heart	heart
15	chr5:43732400-43733000	Enhancers	Fetal Heart	heart
16	chr5:43737000-43737400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:43737200-43737400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:43737400-43737600	Enhancers	A549	lung
19	chr5:43737400-43746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:43746200-43747200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:43746600-43747200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:43746800-43747200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr5:43747200-43753000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:43748600-43748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:43753000-43753800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:43760000-43760600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:43762800-43763000	Active TSS	Spleen	Spleen
28	chr5:43769000-43774400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:43769000-43776000	Enhancers	Fetal Lung	lung
30	chr5:43769200-43769400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:43769200-43770800	Enhancers	Osteobl	bone
32	chr5:43769200-43772000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:43769400-43769600	Enhancers	Fetal Muscle Leg	muscle
34	chr5:43769400-43769800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:43769400-43769800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:43769400-43769800	Enhancers	NHDF-Ad	bronchial
37	chr5:43769400-43770600	Enhancers	Adipose Nuclei	Adipose
38	chr5:43769400-43771200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:43769400-43771400	Enhancers	Fetal Stomach	stomach
40	chr5:43769600-43769800	Enhancers	Colon Smooth Muscle	Colon
41	chr5:43769600-43770000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:43769600-43770200	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:43769800-43770200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:43769800-43770200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:43769800-43770200	Weak transcription	NHDF-Ad	bronchial
46	chr5:43769800-43770400	Active TSS	Colon Smooth Muscle	Colon
47	chr5:43769800-43770600	Enhancers	Rectal Smooth Muscle	rectum
48	chr5:43769800-43770800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:43770000-43772800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:43770200-43770400	Enhancers	Muscle Satellite Cultured Cells	--

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