Variant report

Variant	esv3339666
Chromosome Location	chr5:164771199-164773747
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	JUND	chr5:164773201-164773340	HepG2	liver:	n/a	chr5:164773286-164773295
2	STAT3	chr5:164771516-164771686	MCF10A-Er-Src	breast:	n/a	chr5:164771559-164771570

Variant related genes	Relation type
ENSG00000253693	TF binding region

Extended variants
information (count: 148 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563196464	chr5:164771245-164771246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530626841	chr5:164771247-164771248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552176978	chr5:164771270-164771271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143388057	chr5:164771280-164771281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1432988	chr5:164771289-164771290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148308550	chr5:164771328-164771329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546608104	chr5:164771345-164771346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568234119	chr5:164771348-164771349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535253941	chr5:164771406-164771407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572998909	chr5:164771421-164771422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530100105	chr5:164771446-164771447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373184062	chr5:164771461-164771462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557119331	chr5:164771492-164771493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570023070	chr5:164771495-164771496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141524599	chr5:164771545-164771546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558511269	chr5:164771557-164771558	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576853536	chr5:164771565-164771566	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111524614	chr5:164771600-164771601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541323311	chr5:164771638-164771639	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs187479332	chr5:164771641-164771642	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575086686	chr5:164771644-164771645	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376041732	chr5:164771666-164771667	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs116303191	chr5:164771678-164771679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs1368415	chr5:164771702-164771703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79693456	chr5:164771703-164771704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545956548	chr5:164771751-164771752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1821265	chr5:164771761-164771762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528131626	chr5:164771769-164771770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71601938	chr5:164771809-164771810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147029315	chr5:164771819-164771820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544301589	chr5:164771831-164771832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561785041	chr5:164771832-164771833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79069668	chr5:164771837-164771838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529207703	chr5:164771859-164771860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550467484	chr5:164771901-164771902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568745331	chr5:164771906-164771907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537126631	chr5:164771907-164771908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552298623	chr5:164771912-164771913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376404953	chr5:164771933-164771934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534670070	chr5:164772007-164772008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542455189	chr5:164772027-164772028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575004472	chr5:164772031-164772032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536164963	chr5:164772032-164772033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143666001	chr5:164772087-164772088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368544516	chr5:164772088-164772089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192035306	chr5:164772121-164772122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370827921	chr5:164772158-164772159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545913593	chr5:164772159-164772160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4451071	chr5:164772207-164772208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572974697	chr5:164772219-164772220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164769000-164778800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:164769200-164778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:164769400-164776800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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