Variant report

Variant	nsv965574
Chromosome Location	chr5:119177789-119196537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112506502	chr5:119177849-119177850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527981411	chr5:119177877-119177878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536505482	chr5:119177901-119177902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147595561	chr5:119177949-119177950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561283592	chr5:119177968-119177969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530103778	chr5:119177983-119177984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114068336	chr5:119177986-119177987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74393502	chr5:119178039-119178040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73792677	chr5:119178125-119178126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536467443	chr5:119178141-119178142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376761591	chr5:119178177-119178178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373678092	chr5:119178181-119178182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373829934	chr5:119178182-119178183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369177696	chr5:119178183-119178184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11352642	chr5:119178208-119178209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375005664	chr5:119178224-119178225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138751409	chr5:119178239-119178240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142762386	chr5:119178256-119178257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554408888	chr5:119178260-119178261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367632292	chr5:119178265-119178266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186062617	chr5:119178266-119178267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80107995	chr5:119178270-119178271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553645556	chr5:119178276-119178277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374005984	chr5:119178310-119178311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576875733	chr5:119178316-119178317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545837125	chr5:119178382-119178383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139249775	chr5:119178393-119178394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190964666	chr5:119178407-119178408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113583734	chr5:119178414-119178415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532025794	chr5:119178460-119178461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541782791	chr5:119178469-119178470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561545973	chr5:119178485-119178486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530161434	chr5:119178486-119178487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73259786	chr5:119178500-119178501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141550394	chr5:119178572-119178573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183331365	chr5:119178596-119178597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554668094	chr5:119178627-119178628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576211442	chr5:119178633-119178634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552610717	chr5:119178646-119178647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565445524	chr5:119178651-119178652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528273790	chr5:119178653-119178654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548105409	chr5:119178715-119178716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7708816	chr5:119178721-119178722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371571683	chr5:119178723-119178724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536907000	chr5:119178757-119178758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556544173	chr5:119178772-119178773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186144460	chr5:119178788-119178789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190503795	chr5:119178789-119178790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115955600	chr5:119178834-119178835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572583133	chr5:119178878-119178879	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119165200-119178800	Weak transcription	Aorta	Aorta
2	chr5:119178800-119179000	Active TSS	Aorta	Aorta
3	chr5:119179600-119180000	Enhancers	Fetal Brain Male	brain
4	chr5:119187600-119188400	Enhancers	Fetal Intestine Large	intestine
5	chr5:119187600-119188800	Enhancers	HepG2	liver
6	chr5:119187800-119188200	Enhancers	Liver	Liver
7	chr5:119194600-119195400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:119194800-119195600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:119196000-119196200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:119196000-119196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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