Variant report

Variant	nsv599390
Chromosome Location	chr5:111940954-111944473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111886884..111887988-chr5:111940509..111941323,3	K562	blood:
2	chr5:111938998..111941379-chr5:111945188..111946889,2	MCF-7	breast:

Extended variants
information (count: 136 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532834242	chr5:111940955-111940956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529351661	chr5:111941007-111941008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374498748	chr5:111941041-111941042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568591853	chr5:111941042-111941043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79408531	chr5:111941057-111941058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145290435	chr5:111941078-111941079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562635525	chr5:111941087-111941088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533373769	chr5:111941141-111941142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192940400	chr5:111941164-111941165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567167962	chr5:111941266-111941267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527947993	chr5:111941280-111941281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184623673	chr5:111941294-111941295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567228982	chr5:111941321-111941322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537830972	chr5:111941428-111941429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6863777	chr5:111941441-111941442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571343905	chr5:111941444-111941445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180856726	chr5:111941463-111941464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185108079	chr5:111941482-111941483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572328433	chr5:111941500-111941501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566659995	chr5:111941526-111941527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542511529	chr5:111941527-111941528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367712837	chr5:111941567-111941568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs70973642	chr5:111941568-111941569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397999008	chr5:111941592-111941593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144886685	chr5:111941595-111941596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573741007	chr5:111941639-111941640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189389068	chr5:111941694-111941695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562674402	chr5:111941702-111941703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10073386	chr5:111941816-111941817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6864143	chr5:111941838-111941839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549002754	chr5:111941856-111941857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62365802	chr5:111941936-111941937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10058488	chr5:111941939-111941940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373854191	chr5:111941952-111941953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537760825	chr5:111941956-111941957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557289109	chr5:111942011-111942012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567957048	chr5:111942019-111942020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149061558	chr5:111942035-111942036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199822104	chr5:111942071-111942072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549787912	chr5:111942072-111942073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571381177	chr5:111942078-111942079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376915768	chr5:111942087-111942088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573001596	chr5:111942105-111942106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538329137	chr5:111942132-111942133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553936777	chr5:111942150-111942151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369153856	chr5:111942173-111942174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536439122	chr5:111942174-111942175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560892708	chr5:111942229-111942230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575912923	chr5:111942251-111942252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11241175	chr5:111942320-111942321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111938800-111941000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:111938800-111941000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:111938800-111941200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:111939000-111941000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:111940000-111941200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr5:111940000-111941200	Enhancers	Fetal Intestine Large	intestine
7	chr5:111940000-111941400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:111940200-111941000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:111940200-111941000	Enhancers	HepG2	liver
10	chr5:111940400-111941000	Enhancers	Liver	Liver
11	chr5:111940400-111941200	Enhancers	Brain Anterior Caudate	brain
12	chr5:111940600-111941000	Enhancers	Brain Hippocampus Middle	brain
13	chr5:111940600-111941000	Enhancers	Brain Substantia Nigra	brain
14	chr5:111941000-111943600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:111941000-111952600	Weak transcription	Right Atrium	heart
16	chr5:111941200-111943400	Weak transcription	Fetal Intestine Large	intestine
17	chr5:111941400-111943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:111943200-111945200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:111943400-111945400	Active TSS	Fetal Intestine Large	intestine
20	chr5:111943600-111945400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:111943800-111944200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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