Variant report

Variant	nsv965570
Chromosome Location	chr5:113596430-113622354
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	chr5:113589881..113591473-chr5:113600185..113602176,2	K562	blood:

Extended variants
information (count: 354 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181763350	chr5:113596446-113596447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556902291	chr5:113596474-113596475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114311472	chr5:113596495-113596496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4590173	chr5:113596517-113596518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553846612	chr5:113596579-113596580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113563873	chr5:113596627-113596628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4478312	chr5:113596658-113596659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143677776	chr5:113596688-113596689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189352911	chr5:113596692-113596693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114432358	chr5:113596750-113596751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5870590	chr5:113596794-113596795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150849063	chr5:113596801-113596802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116572249	chr5:113596820-113596821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13185574	chr5:113596858-113596859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559072632	chr5:113596959-113596960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139325193	chr5:113596974-113596975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4330454	chr5:113597019-113597020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569725008	chr5:113597058-113597059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113967057	chr5:113597078-113597079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149556579	chr5:113597087-113597088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34376281	chr5:113597099-113597100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186227999	chr5:113597102-113597103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554164230	chr5:113597134-113597135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554891400	chr5:113597184-113597185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565938044	chr5:113597213-113597214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115623389	chr5:113597221-113597222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550544019	chr5:113597228-113597229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536390872	chr5:113597260-113597261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386691311	chr5:113597277-113597278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114889816	chr5:113597279-113597280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556218387	chr5:113597306-113597307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190213243	chr5:113597323-113597324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367611931	chr5:113597344-113597345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144244996	chr5:113597377-113597378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181429978	chr5:113597461-113597462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569448635	chr5:113597464-113597465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540948138	chr5:113597480-113597481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559339304	chr5:113597516-113597517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574493113	chr5:113597548-113597549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539676098	chr5:113597573-113597574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79832838	chr5:113597576-113597577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563390936	chr5:113597595-113597596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371809603	chr5:113597598-113597599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566625960	chr5:113597632-113597633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140164238	chr5:113597665-113597666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374193484	chr5:113597687-113597688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143910342	chr5:113597692-113597693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72799610	chr5:113597712-113597713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185910593	chr5:113597749-113597750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565993560	chr5:113597765-113597766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113591400-113597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:113597000-113597600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:113597600-113602000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:113600800-113601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:113601000-113601600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:113601000-113601600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:113601000-113601600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:113601000-113602200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:113601200-113601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:113601400-113601600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:113601400-113602200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:113601600-113603000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:113602000-113602400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:113602000-113602400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:113602200-113602600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:113602400-113603400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:113602400-113603600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:113603000-113603800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:113603600-113603800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:113603600-113604400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:113614000-113614400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:113614200-113614600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:113614200-113614600	Active TSS	HUES6 Cell Line	embryonic stem cell

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