Variant report

Variant	esv3471624
Chromosome Location	chr5:116359403-116361501
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	chr5:116360886-116361118	HepG2	liver:	n/a	chr5:116360957-116360975
2	MAFF	chr5:116360911-116361046	K562	blood:	n/a	chr5:116360957-116360975
3	MAFK	chr5:116360802-116361101	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:116361276-116361399	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116360894..116363806-chr5:116375344..116377265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250650	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141721693	chr5:116359456-116359457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370856204	chr5:116359488-116359489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186819021	chr5:116359496-116359497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571304134	chr5:116359497-116359498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533879641	chr5:116359517-116359518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553549165	chr5:116359580-116359581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375331271	chr5:116359585-116359586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536814644	chr5:116359618-116359619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556914101	chr5:116359632-116359633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576794179	chr5:116359648-116359649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561614008	chr5:116359668-116359669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545100727	chr5:116359751-116359752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559771481	chr5:116359758-116359759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112649798	chr5:116359760-116359761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558900800	chr5:116359770-116359771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34242248	chr5:116359786-116359787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140012747	chr5:116359790-116359791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145424533	chr5:116359808-116359809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562628047	chr5:116359830-116359831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367896400	chr5:116359832-116359833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561017435	chr5:116359881-116359882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189672838	chr5:116359912-116359913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34837421	chr5:116359918-116359919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182641427	chr5:116359923-116359924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562468341	chr5:116359924-116359925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531634433	chr5:116359931-116359932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62376503	chr5:116359942-116359943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371689383	chr5:116359998-116359999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115024594	chr5:116360008-116360009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147257161	chr5:116360020-116360021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187983472	chr5:116360115-116360116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547491716	chr5:116360118-116360119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202199211	chr5:116360141-116360142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567336714	chr5:116360144-116360145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536882001	chr5:116360173-116360174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542516519	chr5:116360179-116360180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556773440	chr5:116360247-116360248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570402236	chr5:116360248-116360249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537357568	chr5:116360268-116360269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539328542	chr5:116360269-116360270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35223523	chr5:116360277-116360278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10051999	chr5:116360279-116360280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562008788	chr5:116360289-116360290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192853762	chr5:116360306-116360307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199835575	chr5:116360320-116360321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370685498	chr5:116360358-116360359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539348761	chr5:116360360-116360361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372673616	chr5:116360377-116360378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185221748	chr5:116360393-116360394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35539258	chr5:116360402-116360403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116356600-116366800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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