Variant report

Variant	nsv970967
Chromosome Location	chr7:150359145-150361050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150345053..150347622-chr7:150357976..150360904,2	MCF-7	breast:
2	chr7:150359279..150361425-chr7:150361941..150364354,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563179138	chr7:150359169-150359170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34387491	chr7:150359201-150359202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550181786	chr7:150359249-150359250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568477485	chr7:150359255-150359256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112452526	chr7:150359283-150359284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193071103	chr7:150359360-150359361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528444618	chr7:150359372-150359373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185804689	chr7:150359385-150359386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12113581	chr7:150359387-150359388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75757471	chr7:150359398-150359399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553887468	chr7:150359400-150359401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556641740	chr7:150359416-150359417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115941670	chr7:150359453-150359454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535539336	chr7:150359475-150359476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140200248	chr7:150359490-150359491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572104522	chr7:150359515-150359516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557365766	chr7:150359526-150359527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141973463	chr7:150359540-150359541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150691832	chr7:150359558-150359559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578124373	chr7:150359559-150359560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576422473	chr7:150359570-150359571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563384766	chr7:150359671-150359672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537305011	chr7:150359685-150359686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529030949	chr7:150359708-150359709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565829908	chr7:150359729-150359730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542743362	chr7:150359786-150359787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117101936	chr7:150359841-150359842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139713036	chr7:150359874-150359875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190477440	chr7:150359940-150359941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11972223	chr7:150360056-150360057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530750616	chr7:150360077-150360078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149767319	chr7:150360088-150360089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180710144	chr7:150360121-150360122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535599476	chr7:150360354-150360355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371712424	chr7:150360358-150360359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112502393	chr7:150360441-150360442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185086436	chr7:150360479-150360480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28736331	chr7:150360481-150360482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs558444940	chr7:150360482-150360483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578160655	chr7:150360490-150360491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370673829	chr7:150360521-150360522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146824218	chr7:150360532-150360533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557613853	chr7:150360543-150360544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578186947	chr7:150360545-150360546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188533188	chr7:150360569-150360570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373259591	chr7:150360584-150360585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181323978	chr7:150360637-150360638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559446213	chr7:150360729-150360730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541152204	chr7:150360741-150360742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185797624	chr7:150360753-150360754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150354800-150362000	Weak transcription	Right Atrium	heart
2	chr7:150355800-150360800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:150357600-150365000	Enhancers	Primary T cells from cord blood	blood
4	chr7:150358000-150360800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr7:150358000-150360800	Enhancers	Dnd41	blood
6	chr7:150358000-150365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:150358000-150369000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:150358200-150360800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:150358200-150360800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:150358200-150360800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:150358200-150360800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:150358200-150360800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:150358200-150360800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:150358400-150359400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:150358400-150360800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:150358600-150359400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:150358600-150365600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:150358800-150359800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:150358800-150360600	Weak transcription	Fetal Thymus	thymus
20	chr7:150358800-150360800	Enhancers	GM12878-XiMat	blood
21	chr7:150358800-150362200	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:150359200-150359400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:150359400-150360400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:150359400-150360400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:150359400-150360600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:150359400-150366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:150359800-150360000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:150359800-150363400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:150360400-150365400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:150360400-150367000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:150360600-150360800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:150360600-150361400	Enhancers	Thymus	Thymus
33	chr7:150360600-150367000	Enhancers	Fetal Thymus	thymus
34	chr7:150360800-150361000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:150360800-150361200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr7:150360800-150361200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:150360800-150361400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr7:150360800-150361600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:150360800-150361600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr7:150360800-150361600	Enhancers	Lung	lung
41	chr7:150360800-150361600	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:150360800-150362200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:150360800-150362200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:150360800-150362200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr7:150360800-150362200	Flanking Active TSS	Dnd41	blood
46	chr7:150360800-150363000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr7:150360800-150363800	Enhancers	Spleen	Spleen
48	chr7:150360800-150364400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr7:150361000-150361200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr7:150361000-150361200	Enhancers	K562	blood

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