Variant report

Variant	nsv1034582
Chromosome Location	chr7:4067574-4084716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:
2	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:
3	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:
4	chr7:4046706..4048261-chr7:4069648..4071782,2	MCF-7	breast:
5	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:

Extended variants
information (count: 969 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs730771	chr7:4067574-4067575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547733020	chr7:4067590-4067591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181832287	chr7:4067666-4067667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577248939	chr7:4067683-4067684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576417845	chr7:4067713-4067714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543599350	chr7:4067744-4067745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116339944	chr7:4067748-4067749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80250614	chr7:4067754-4067755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559551114	chr7:4067758-4067759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148874862	chr7:4067785-4067786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs66944213	chr7:4067786-4067787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572096988	chr7:4067797-4067798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542353280	chr7:4067801-4067802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541358152	chr7:4067802-4067803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554565879	chr7:4067803-4067804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73673253	chr7:4067821-4067822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151269104	chr7:4067861-4067862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140464632	chr7:4067870-4067871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145646984	chr7:4067871-4067872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113592504	chr7:4067880-4067881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531892872	chr7:4067889-4067890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565486155	chr7:4067893-4067894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75782626	chr7:4067917-4067918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138189875	chr7:4067931-4067932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17134194	chr7:4067972-4067973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs17134195	chr7:4068020-4068021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371803151	chr7:4068030-4068031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549776254	chr7:4068038-4068039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35018186	chr7:4068048-4068049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116738291	chr7:4068054-4068055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558584335	chr7:4068055-4068056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565916055	chr7:4068092-4068093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143064221	chr7:4068094-4068095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554885715	chr7:4068106-4068107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56004100	chr7:4068112-4068113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531671156	chr7:4068114-4068115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117347686	chr7:4068124-4068125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556999640	chr7:4068147-4068148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35771834	chr7:4068160-4068161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576868871	chr7:4068193-4068194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545960451	chr7:4068198-4068199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113272469	chr7:4068227-4068228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145140617	chr7:4068246-4068247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572628996	chr7:4068265-4068266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58027329	chr7:4068274-4068275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561495163	chr7:4068283-4068284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530346705	chr7:4068324-4068325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185792715	chr7:4068329-4068330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563350267	chr7:4068341-4068342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138912627	chr7:4068345-4068346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4061400-4073200	Weak transcription	Fetal Lung	lung
3	chr7:4061400-4080800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:4064600-4067800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:4065600-4077000	Weak transcription	Aorta	Aorta
6	chr7:4066000-4069800	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:4066200-4067800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:4066600-4069600	Weak transcription	Fetal Stomach	stomach
9	chr7:4066800-4082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:4066800-4087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
12	chr7:4067600-4067800	Enhancers	Psoas Muscle	Psoas
13	chr7:4067800-4068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:4069600-4070200	Enhancers	Fetal Stomach	stomach
15	chr7:4069800-4070200	Enhancers	Colon Smooth Muscle	Colon
16	chr7:4072000-4072200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:4072200-4073200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:4073000-4073400	Enhancers	Primary T cells from cord blood	blood
19	chr7:4073200-4073800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:4073200-4073800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:4073200-4074000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:4073200-4074000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:4073200-4074000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:4073200-4074000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:4073200-4074000	Enhancers	Fetal Lung	lung
26	chr7:4073200-4074200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:4073200-4074400	Enhancers	Fetal Brain Male	brain
28	chr7:4073400-4074000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:4073800-4079200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:4074000-4078400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:4074000-4078400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:4074000-4079200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:4074000-4079600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:4074200-4079200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:4077000-4078000	Strong transcription	Aorta	Aorta
36	chr7:4077600-4077800	Enhancers	Spleen	Spleen
37	chr7:4077800-4078000	Enhancers	Fetal Muscle Leg	muscle
38	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
39	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
40	chr7:4078400-4078600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:4078400-4078600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:4078400-4078800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:4078400-4078800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:4078400-4081200	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:4078600-4079000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:4078600-4079600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:4078800-4079000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:4078800-4079200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:4079000-4079600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:4079000-4080000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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