Variant report

Variant	nsv968237
Chromosome Location	chr5:118881981-118883708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr5:118882392-118882452	HepG2	liver:	n/a	n/a
2	MAFK	chr5:118882313-118882437	HepG2	liver:	n/a	n/a
3	MAFK	chr5:118882314-118882510	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:118883010-118883146	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:118882036-118882070	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:118883099-118883155	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr5:118883663-118883856	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr5:118881903-118882103	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000213663	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369773923	chr5:118882014-118882015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80001599	chr5:118882061-118882062	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs572683881	chr5:118882072-118882073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11956487	chr5:118882092-118882093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561309637	chr5:118882098-118882099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574896941	chr5:118882132-118882133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370252501	chr5:118882209-118882210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373246590	chr5:118882217-118882218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563789494	chr5:118882243-118882244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532308253	chr5:118882251-118882252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184497385	chr5:118882260-118882261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565951551	chr5:118882265-118882266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539684226	chr5:118882282-118882283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200726478	chr5:118882284-118882285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35100628	chr5:118882304-118882305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528416751	chr5:118882316-118882317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548165559	chr5:118882317-118882318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112539857	chr5:118882334-118882335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199624899	chr5:118882335-118882336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369626478	chr5:118882336-118882337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116418505	chr5:118882340-118882341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201987893	chr5:118882341-118882342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570239811	chr5:118882428-118882429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11959643	chr5:118882434-118882435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558925359	chr5:118882489-118882490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200207430	chr5:118882495-118882496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11956614	chr5:118882502-118882503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534957222	chr5:118882503-118882504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72790212	chr5:118882515-118882516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11956618	chr5:118882517-118882518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11959671	chr5:118882523-118882524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114532191	chr5:118882555-118882556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10077255	chr5:118882601-118882602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146012918	chr5:118882618-118882619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545969226	chr5:118882643-118882644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374407055	chr5:118882645-118882646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186168185	chr5:118882681-118882682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78608469	chr5:118882682-118882683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11959717	chr5:118882714-118882715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570354507	chr5:118882739-118882740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189030194	chr5:118882746-118882747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182422248	chr5:118882747-118882748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148678124	chr5:118882774-118882775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186065037	chr5:118882779-118882780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114701353	chr5:118882820-118882821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546677871	chr5:118882828-118882829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190869720	chr5:118882841-118882842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535235098	chr5:118882845-118882846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543739852	chr5:118882867-118882868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577371699	chr5:118882884-118882885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118866000-118883200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:118874800-118890200	Weak transcription	Fetal Heart	heart
3	chr5:118878600-118882000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:118878800-118885600	Weak transcription	Fetal Stomach	stomach
5	chr5:118878800-118886800	Weak transcription	Aorta	Aorta
6	chr5:118878800-118888600	Weak transcription	Ovary	ovary
7	chr5:118879000-118884200	Weak transcription	Lung	lung
8	chr5:118879000-118884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:118879000-118885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:118879000-118885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:118879000-118891200	Weak transcription	Pancreas	Pancrea
12	chr5:118879200-118882000	Weak transcription	Liver	Liver
13	chr5:118879200-118887600	Weak transcription	Adipose Nuclei	Adipose
14	chr5:118879200-118892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:118879400-118883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:118881400-118882600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:118881400-118890000	Weak transcription	Brain Angular Gyrus	brain
18	chr5:118883000-118883200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:118883200-118883400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:118883400-118883600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:118883600-118883800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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