Variant report

Variant	esv3370473
Chromosome Location	chr7:150304419-150308717
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	NFYB	chr7:150307261-150307604	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:150304969-150305006	K562	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: 240 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:240 , 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	rs113982385	chr7:150304432-150304433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185285261	chr7:150304448-150304449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201607181	chr7:150304450-150304451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562168034	chr7:150304474-150304475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527786715	chr7:150304487-150304488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541469291	chr7:150304500-150304501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546250796	chr7:150304522-150304523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533687353	chr7:150304535-150304536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147200895	chr7:150304545-150304546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111859395	chr7:150304632-150304633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191175417	chr7:150304636-150304637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182872110	chr7:150304639-150304640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144562772	chr7:150304652-150304653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534397802	chr7:150304653-150304654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147850878	chr7:150304674-150304675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188140259	chr7:150304679-150304680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536965989	chr7:150304703-150304704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557182397	chr7:150304717-150304718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191236965	chr7:150304725-150304726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542856667	chr7:150304729-150304730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376375735	chr7:150304759-150304760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182736509	chr7:150304767-150304768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6949777	chr7:150304769-150304770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373828482	chr7:150304792-150304793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149882444	chr7:150304811-150304812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578040472	chr7:150304815-150304816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6967517	chr7:150304818-150304819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs367630390	chr7:150304829-150304830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112292265	chr7:150304851-150304852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6968053	chr7:150304860-150304861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192477656	chr7:150304876-150304877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374575823	chr7:150304887-150304888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145101572	chr7:150304907-150304908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113520104	chr7:150304934-150304935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551029077	chr7:150304956-150304957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150650207	chr7:150304999-150305000	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552211290	chr7:150305027-150305028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570922792	chr7:150305052-150305053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62504167	chr7:150305066-150305067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6967987	chr7:150305077-150305078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184844590	chr7:150305089-150305090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377267518	chr7:150305112-150305113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57378599	chr7:150305117-150305118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187547850	chr7:150305122-150305123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201067944	chr7:150305163-150305164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202220343	chr7:150305183-150305184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192618542	chr7:150305188-150305189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535131383	chr7:150305199-150305200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558235632	chr7:150305214-150305215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578141723	chr7:150305222-150305223	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
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:30 , 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	chr7:150303600-150304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:150303600-150307800	Weak transcription	Primary T cells from cord blood	blood
10	chr7:150303800-150307000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:150304800-150305200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150305200-150306800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:150306800-150307800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:150306800-150308000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:150307000-150307600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:150307000-150307600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:150307000-150307800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:150307000-150307800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:150307000-150308400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:150307200-150307600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:150307600-150309000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:150307600-150309000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:150307600-150309200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:150307800-150308000	Enhancers	Primary T cells from cord blood	blood
25	chr7:150307800-150309000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:150307800-150309800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:150307800-150310200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:150308000-150309800	Weak transcription	Primary T cells from cord blood	blood
29	chr7:150308000-150310000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:150308400-150308800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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