Variant report

Variant	esv3431995
Chromosome Location	chr7:150299969-150305067
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	FOXA2	chr7:150302944-150303317	A549	lung:	n/a	n/a
2	POLR2A	chr7:150304969-150305006	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP6-1	chr7:150300649-150301732	NONHSAT124145

Variant related genes	Relation type
ENSG00000271568	TF binding region

Extended variants
information (count: 322 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113866618	chr7:150299984-150299985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184295257	chr7:150300014-150300015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146816454	chr7:150300020-150300021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554452501	chr7:150300049-150300050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77685937	chr7:150300051-150300052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540119898	chr7:150300075-150300076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551177269	chr7:150300093-150300094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576680132	chr7:150300105-150300106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538691179	chr7:150300121-150300122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554158159	chr7:150300156-150300157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181515539	chr7:150300157-150300158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4015639	chr7:150300178-150300179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534101853	chr7:150300213-150300214	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555194238	chr7:150300286-150300287	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564099256	chr7:150300300-150300301	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11983983	chr7:150300325-150300326	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190230319	chr7:150300326-150300327	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573545234	chr7:150300380-150300381	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563166208	chr7:150300381-150300382	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529020793	chr7:150300386-150300387	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs1879871	chr7:150300393-150300394	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs1879872	chr7:150300424-150300425	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs182416282	chr7:150300429-150300430	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547517299	chr7:150300433-150300434	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140967435	chr7:150300434-150300435	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570801686	chr7:150300444-150300445	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs4367453	chr7:150300448-150300449	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs185951707	chr7:150300456-150300457	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs544751746	chr7:150300468-150300469	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189885679	chr7:150300472-150300473	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs116326366	chr7:150300481-150300482	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111744837	chr7:150300499-150300500	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73475321	chr7:150300539-150300540	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181128425	chr7:150300549-150300550	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185573816	chr7:150300552-150300553	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557498691	chr7:150300576-150300577	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs4725348	chr7:150300613-150300614	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113863278	chr7:150300653-150300654	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs543329662	chr7:150300672-150300673	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs73727349	chr7:150300707-150300708	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs573506472	chr7:150300715-150300716	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs542506943	chr7:150300726-150300727	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs11984138	chr7:150300735-150300736	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs561565139	chr7:150300738-150300739	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs531983229	chr7:150300777-150300778	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs62504164	chr7:150300781-150300782	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs547839401	chr7:150300782-150300783	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs564336984	chr7:150300801-150300802	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs533321877	chr7:150300802-150300803	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs113907893	chr7:150300821-150300822	Enhancers Weak transcription	lncRNA	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150292600-150300200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:150293000-150300200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:150293200-150300200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:150294400-150300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr7:150300200-150300600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr7:150300200-150300800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:150300200-150301000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150300200-150301200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:150300200-150301400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150300200-150301600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:150300200-150301800	Enhancers	Primary T cells from cord blood	blood
12	chr7:150300200-150301800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:150300200-150303000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:150300400-150300600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:150300400-150301400	Enhancers	Dnd41	blood
16	chr7:150300600-150301400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:150300600-150301800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:150300600-150302200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:150300600-150316800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:150300800-150301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:150301000-150307000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:150301200-150302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:150301200-150307000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:150301400-150307000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:150301600-150303200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:150301800-150303000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:150301800-150303200	Weak transcription	Primary T cells from cord blood	blood
28	chr7:150302200-150307000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:150302600-150303800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:150302600-150309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:150303000-150303600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150303000-150306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:150303200-150303600	Enhancers	Primary T cells from cord blood	blood
34	chr7:150303200-150303800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:150303600-150304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:150303600-150307800	Weak transcription	Primary T cells from cord blood	blood
37	chr7:150303800-150307000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:150304800-150305200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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