Variant report

Variant	esv13954
Chromosome Location	chr7:150292485-150307048
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	CTCF	chr7:150299328-150299415	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr7:150293420-150293457	Lung_OC	lung:	n/a	n/a
3	FOXA2	chr7:150294473-150294994	A549	lung:	n/a	n/a
4	FOXA2	chr7:150302944-150303317	A549	lung:	n/a	n/a
5	GATA2	chr7:150292481-150292745	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr7:150292372-150292925	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr7:150293171-150293223	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr7:150304969-150305006	K562	blood:	n/a	n/a
9	SETDB1	chr7:150294278-150294562	U2OS	brain:	n/a	n/a
10	SPI1	chr7:150298248-150298385	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: 1006 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6969250	chr7:150292545-150292546	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533876803	chr7:150292546-150292547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554080767	chr7:150292560-150292561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577127543	chr7:150292561-150292562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561456613	chr7:150292613-150292614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545981018	chr7:150292684-150292685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10240209	chr7:150292701-150292702	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs185067537	chr7:150292720-150292721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570732321	chr7:150292735-150292736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544685247	chr7:150292761-150292762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11981436	chr7:150292767-150292768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs532706616	chr7:150292768-150292769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530086410	chr7:150292770-150292771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189880129	chr7:150292803-150292804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10215009	chr7:150292809-150292810	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs73727339	chr7:150292820-150292821	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11981515	chr7:150292841-150292842	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs114480266	chr7:150292848-150292849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531345634	chr7:150292872-150292873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548252641	chr7:150292914-150292915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552875191	chr7:150292944-150292945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181144645	chr7:150292956-150292957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375266676	chr7:150292973-150292974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10216102	chr7:150292991-150292992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs554119462	chr7:150292997-150292998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138419012	chr7:150293005-150293006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570714264	chr7:150293042-150293043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185592373	chr7:150293044-150293045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12673131	chr7:150293076-150293077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs142105463	chr7:150293086-150293087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576172112	chr7:150293088-150293089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145816337	chr7:150293113-150293114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73475303	chr7:150293114-150293115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555016777	chr7:150293141-150293142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546125462	chr7:150293145-150293146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564171859	chr7:150293148-150293149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57899656	chr7:150293153-150293154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs12673133	chr7:150293191-150293192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs57729315	chr7:150293221-150293222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs12673168	chr7:150293237-150293238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs576258511	chr7:150293263-150293264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138463836	chr7:150293264-150293265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562974643	chr7:150293267-150293268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143092735	chr7:150293270-150293271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547996327	chr7:150293287-150293288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150612080	chr7:150293319-150293320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56385394	chr7:150293325-150293326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183547035	chr7:150293340-150293341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544798580	chr7:150293369-150293370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139718751	chr7:150293385-150293386	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150291200-150292600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:150291200-150293200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:150291200-150293800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr7:150291400-150292600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:150291800-150292600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:150291800-150292800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:150291800-150293000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:150291800-150293200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:150291800-150293200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr7:150292000-150292600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:150292000-150292800	Enhancers	Primary T cells from cord blood	blood
12	chr7:150292000-150293000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:150292000-150293200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:150292000-150293200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr7:150292000-150293200	Enhancers	HUVEC	blood vessel
16	chr7:150292200-150296200	Weak transcription	Right Atrium	heart
17	chr7:150292400-150293400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:150292600-150300200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:150293000-150300200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:150293200-150294200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:150293200-150300200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:150294200-150294400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr7:150294400-150300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:150300200-150300600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr7:150300200-150300800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr7:150300200-150301000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:150300200-150301200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:150300200-150301400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:150300200-150301600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:150300200-150301800	Enhancers	Primary T cells from cord blood	blood
31	chr7:150300200-150301800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150300200-150303000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr7:150300400-150300600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:150300400-150301400	Enhancers	Dnd41	blood
35	chr7:150300600-150301400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr7:150300600-150301800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr7:150300600-150302200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:150300600-150316800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:150300800-150301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:150301000-150307000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:150301200-150302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr7:150301200-150307000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:150301400-150307000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:150301600-150303200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:150301800-150303000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:150301800-150303200	Weak transcription	Primary T cells from cord blood	blood
47	chr7:150302200-150307000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:150302600-150303800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:150302600-150309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:150303000-150303600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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