Variant report

Variant	nsv970980
Chromosome Location	chr7:153818997-153864587
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	chr7:149639335..149639849-chr7:153850966..153851836,2	MCF-7	breast:

Extended variants
information (count: 466 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561942804	chr7:153823237-153823238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529321756	chr7:153823289-153823290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550680506	chr7:153823321-153823322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562680338	chr7:153823348-153823349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530598677	chr7:153823349-153823350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146706297	chr7:153823350-153823351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570717817	chr7:153823410-153823411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4726375	chr7:153823411-153823412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3115110	chr7:153823474-153823475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546547020	chr7:153823489-153823490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3111981	chr7:153823499-153823500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188490178	chr7:153823516-153823517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3115111	chr7:153823517-153823518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3115112	chr7:153823523-153823524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575455782	chr7:153823528-153823529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537929880	chr7:153823568-153823569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540011388	chr7:153823595-153823596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558075536	chr7:153823606-153823607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573434541	chr7:153823660-153823661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377619740	chr7:153823702-153823703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561714635	chr7:153823737-153823738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573685785	chr7:153823738-153823739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544229464	chr7:153823815-153823816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562639710	chr7:153823821-153823822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375888486	chr7:153823854-153823855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3115113	chr7:153823895-153823896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552309742	chr7:153823918-153823919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564130638	chr7:153823928-153823929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3115114	chr7:153823938-153823939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528353317	chr7:153823939-153823940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546561083	chr7:153823968-153823969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556012679	chr7:153823992-153823993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79527835	chr7:153824120-153824121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150605691	chr7:153824127-153824128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568930129	chr7:153824233-153824234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539161042	chr7:153824279-153824280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558304835	chr7:153824280-153824281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181284273	chr7:153824360-153824361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139702650	chr7:153824392-153824393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375041659	chr7:153824434-153824435	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555621031	chr7:153824460-153824461	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377548581	chr7:153824508-153824509	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs146033027	chr7:153824509-153824510	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553607704	chr7:153824512-153824513	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183528172	chr7:153824533-153824534	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370537038	chr7:153824572-153824573	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs188213806	chr7:153824605-153824606	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs578011162	chr7:153824634-153824635	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs545186291	chr7:153824675-153824676	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201641285	chr7:153824679-153824680	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	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
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Cancer	21215367	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153823200-153824400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:153824400-153824600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:153824400-153824800	Enhancers	Fetal Brain Male	brain
4	chr7:153824600-153825000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:153831400-153832600	ZNF genes & repeats	Dnd41	blood
6	chr7:153834600-153834800	Flanking Bivalent TSS/Enh	HSMM	muscle
7	chr7:153834800-153835000	Active TSS	HSMM	muscle
8	chr7:153835000-153835600	Enhancers	Fetal Brain Female	brain
9	chr7:153842600-153842800	Enhancers	Dnd41	blood
10	chr7:153842800-153843400	Weak transcription	Dnd41	blood
11	chr7:153843400-153844000	Enhancers	Dnd41	blood
12	chr7:153843600-153844000	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:153843600-153844000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:153843600-153844000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:153843600-153844000	Enhancers	GM12878-XiMat	blood
16	chr7:153845600-153846400	Enhancers	Fetal Brain Male	brain
17	chr7:153855800-153856400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:153856000-153856400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:153858800-153881600	Weak transcription	Right Atrium	heart
20	chr7:153859800-153860400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:153863400-153866600	Enhancers	Fetal Brain Male	brain
22	chr7:153864200-153865800	Enhancers	Fetal Brain Female	brain
23	chr7:153864400-153864600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links