Variant report

Variant	esv3339481
Chromosome Location	chr7:150306019-150310317
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	MAFK	chr7:150307454-150307735	HepG2	liver:	n/a	n/a
2	MYC	chr7:150308733-150308796	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFYB	chr7:150307261-150307604	GM12878	blood:	n/a	n/a
4	STAT3	chr7:150307491-150307562	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000271568	TF binding region

Extended variants
information (count: 218 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368279385	chr7:150306051-150306052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560946932	chr7:150306094-150306095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529610728	chr7:150306095-150306096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376073322	chr7:150306133-150306134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546615440	chr7:150306137-150306138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566812109	chr7:150306138-150306139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532432368	chr7:150306139-150306140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552430186	chr7:150306141-150306142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568932284	chr7:150306165-150306166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6973927	chr7:150306171-150306172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs180726699	chr7:150306185-150306186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185985194	chr7:150306186-150306187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374683674	chr7:150306187-150306188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191233476	chr7:150306197-150306198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552943205	chr7:150306212-150306213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6973649	chr7:150306222-150306223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6977469	chr7:150306250-150306251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs200330603	chr7:150306298-150306299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201401378	chr7:150306299-150306300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558740032	chr7:150306310-150306311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575706799	chr7:150306314-150306315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6978078	chr7:150306387-150306388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560864491	chr7:150306411-150306412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371707770	chr7:150306420-150306421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540264508	chr7:150306433-150306434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6978211	chr7:150306443-150306444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147422047	chr7:150306450-150306451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372772420	chr7:150306456-150306457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6960100	chr7:150306484-150306485	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs62504169	chr7:150306518-150306519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62491777	chr7:150306531-150306532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6978122	chr7:150306567-150306568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190632376	chr7:150306640-150306641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373233618	chr7:150306645-150306646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531361032	chr7:150306652-150306653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548364308	chr7:150306655-150306656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567697341	chr7:150306656-150306657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182958963	chr7:150306662-150306663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369407448	chr7:150306664-150306665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12668363	chr7:150306668-150306669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538954109	chr7:150306680-150306681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558936770	chr7:150306692-150306693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575890129	chr7:150306696-150306697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77812216	chr7:150306714-150306715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541427442	chr7:150306730-150306731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368123733	chr7:150306731-150306732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188920765	chr7:150306743-150306744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377455337	chr7:150306767-150306768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369044009	chr7:150306771-150306772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538094893	chr7:150306802-150306803	Weak transcription Enhancers	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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150300600-150316800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:150301000-150307000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:150301200-150307000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:150301400-150307000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:150302200-150307000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:150302600-150309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:150303000-150306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:150303600-150307800	Weak transcription	Primary T cells from cord blood	blood
9	chr7:150303800-150307000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:150305200-150306800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:150306800-150307800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:150306800-150308000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:150307000-150307600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:150307000-150307600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:150307000-150307800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:150307000-150307800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:150307000-150308400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:150307200-150307600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:150307600-150309000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:150307600-150309000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:150307600-150309200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:150307800-150308000	Enhancers	Primary T cells from cord blood	blood
23	chr7:150307800-150309000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:150307800-150309800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:150307800-150310200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:150308000-150309800	Weak transcription	Primary T cells from cord blood	blood
27	chr7:150308000-150310000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:150308400-150308800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:150308800-150310200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:150309000-150311600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:150309000-150312600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:150309000-150313000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:150309200-150312000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:150309400-150312600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:150309800-150310200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr7:150309800-150312200	Enhancers	Primary T cells from cord blood	blood
37	chr7:150309800-150312800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:150310000-150312400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:150310200-150310400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr7:150310200-150311400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:150310200-150312000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:150310200-150312200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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