Variant report

Variant	nsv981785
Chromosome Location	chr7:3353184-3367204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3349072..3350762-chr7:3354639..3356462,2	K562	blood:
2	chr7:3351745..3355702-chr7:3356161..3359964,4	K562	blood:
3	chr7:3354663..3356940-chr7:3364964..3367662,2	K562	blood:
4	chr7:3351745..3355702-chr7:3356161..3359964,4	K562	blood:
5	chr7:3354663..3356940-chr7:3364964..3367662,2	K562	blood:
6	chr7:3339157..3341924-chr7:3361736..3363341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146555	chromatin interactions

Extended variants
information (count: 736 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115931459	chr7:3353188-3353189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188392773	chr7:3353207-3353208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540877197	chr7:3353263-3353264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57348351	chr7:3353265-3353266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192271875	chr7:3353289-3353290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533360813	chr7:3353322-3353323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554361326	chr7:3353345-3353346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574425541	chr7:3353346-3353347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568160643	chr7:3353365-3353366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536766477	chr7:3353404-3353405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556503293	chr7:3353407-3353408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576462977	chr7:3353421-3353422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184496805	chr7:3353436-3353437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559267593	chr7:3353444-3353445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572942437	chr7:3353470-3353471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12700787	chr7:3353482-3353483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551945960	chr7:3353492-3353493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58843670	chr7:3353496-3353497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559426001	chr7:3353541-3353542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116997302	chr7:3353558-3353559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562416895	chr7:3353559-3353560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79189714	chr7:3353578-3353579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140988364	chr7:3353596-3353597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112221037	chr7:3353630-3353631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190230328	chr7:3353656-3353657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552903430	chr7:3353671-3353672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566406324	chr7:3353678-3353679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555704936	chr7:3353700-3353701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73288335	chr7:3353713-3353714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535044918	chr7:3353716-3353717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548733518	chr7:3353743-3353744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568572988	chr7:3353768-3353769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553611016	chr7:3353825-3353826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112920241	chr7:3353828-3353829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537132128	chr7:3353895-3353896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577266691	chr7:3353906-3353907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544612386	chr7:3353910-3353911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57456054	chr7:3353920-3353921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570109381	chr7:3353921-3353922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539086363	chr7:3353948-3353949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552558548	chr7:3353981-3353982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181977768	chr7:3354035-3354036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573046397	chr7:3354048-3354049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12700788	chr7:3354076-3354077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555503678	chr7:3354089-3354090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575384904	chr7:3354177-3354178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142787768	chr7:3354181-3354182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150181280	chr7:3354213-3354214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370747814	chr7:3354219-3354220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532543910	chr7:3354249-3354250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Urothelial carcinoma	21177765	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
Nasopharyngeal cancer	20548289	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3343800-3357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:3344600-3366600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3344800-3354600	Weak transcription	Pancreas	Pancrea
4	chr7:3346200-3362400	Weak transcription	Aorta	Aorta
5	chr7:3350200-3366800	Weak transcription	Fetal Brain Male	brain
6	chr7:3350600-3358800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:3353800-3354800	Enhancers	Fetal Heart	heart
8	chr7:3354600-3355200	Enhancers	Pancreas	Pancrea
9	chr7:3356000-3356200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:3356200-3357200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:3357000-3357400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:3357000-3359400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:3357200-3357400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:3357200-3357800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:3357200-3358800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:3357400-3358400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:3357800-3361000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:3358200-3358800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:3358400-3359000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:3358400-3359000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:3358400-3359200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:3358600-3359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:3358600-3359200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:3358800-3359000	Enhancers	Pancreas	Pancrea
25	chr7:3358800-3359200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:3358800-3360600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:3358800-3360800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:3358800-3366800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:3359000-3359800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:3359000-3360600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:3359000-3385800	Weak transcription	Pancreas	Pancrea
32	chr7:3359200-3362400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:3360400-3361800	Enhancers	HepG2	liver
34	chr7:3360600-3361800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:3360600-3364600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:3360800-3361200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:3361000-3361200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:3361000-3361200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:3361200-3362200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:3361800-3362000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:3362200-3363000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:3362400-3362800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:3362400-3362800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:3362400-3363000	ZNF genes & repeats	Aorta	Aorta
45	chr7:3363400-3377800	Weak transcription	Aorta	Aorta
46	chr7:3364600-3367800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:3366600-3366800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:3366800-3367400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:3366800-3367600	Enhancers	Fetal Brain Male	brain
50	chr7:3366800-3372600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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