Variant report

Variant	esv3336135
Chromosome Location	chr7:124864166-124866764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567769330	chr7:124864195-124864196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73440532	chr7:124864227-124864228	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553170873	chr7:124864267-124864268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566894459	chr7:124864283-124864284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77867117	chr7:124864309-124864310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73440534	chr7:124864330-124864331	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545707304	chr7:124864333-124864334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34986417	chr7:124864385-124864386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151168725	chr7:124864433-124864434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544014091	chr7:124864453-124864454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554386221	chr7:124864454-124864455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373769251	chr7:124864479-124864480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574291432	chr7:124864516-124864517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369367851	chr7:124864519-124864520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114117906	chr7:124864520-124864521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532860963	chr7:124864618-124864619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183056694	chr7:124864653-124864654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187029095	chr7:124864676-124864677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545451533	chr7:124864683-124864684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77370819	chr7:124864700-124864701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398095356	chr7:124864702-124864703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140150086	chr7:124864754-124864755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531189159	chr7:124864780-124864781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150326847	chr7:124864784-124864785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574325952	chr7:124864951-124864952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567904489	chr7:124864986-124864987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542310203	chr7:124865096-124865097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192993615	chr7:124865100-124865101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150901010	chr7:124865102-124865103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184341127	chr7:124865117-124865118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112043460	chr7:124865125-124865126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145247901	chr7:124865135-124865136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566825191	chr7:124865169-124865170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140825408	chr7:124865228-124865229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144859270	chr7:124865229-124865230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568903079	chr7:124865239-124865240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138776810	chr7:124865263-124865264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554419208	chr7:124865264-124865265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572802293	chr7:124865277-124865278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370199323	chr7:124865368-124865369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574324024	chr7:124865369-124865370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372744434	chr7:124865395-124865396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540018383	chr7:124865409-124865410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553851883	chr7:124865427-124865428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144572090	chr7:124865467-124865468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371287746	chr7:124865520-124865521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146880463	chr7:124865521-124865522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563171369	chr7:124865528-124865529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73440535	chr7:124865538-124865539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148034865	chr7:124865593-124865594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124862200-124864400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:124862400-124866200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:124863000-124864200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:124863200-124864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:124863400-124864200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:124863600-124864200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:124863800-124864200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:124864000-124864200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:124864200-124864400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:124864200-124865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:124864200-124865200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:124864400-124864800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:124864400-124865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:124864600-124865200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:124864800-124865200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:124865000-124865400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:124865200-124865400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:124865200-124865400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:124865400-124866400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:124865400-124869600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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