Variant report

Variant	nsv1026826
Chromosome Location	chr7:15234496-15275317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:
2	chr7:15253710..15255246-chr7:15258463..15260182,2	K562	blood:
3	chr7:15253710..15255246-chr7:15258463..15260182,2	K562	blood:
4	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:
5	chr7:15238978..15239740-chr7:16110589..16111290,3	K562	blood:

Extended variants
information (count: 1598 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1598 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137909679	chr7:15234512-15234513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534648876	chr7:15234524-15234525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115306725	chr7:15234535-15234536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112286124	chr7:15234568-15234569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62448917	chr7:15234571-15234572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116851563	chr7:15234573-15234574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142343843	chr7:15234582-15234583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145980248	chr7:15234588-15234589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542730923	chr7:15234640-15234641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185760549	chr7:15234664-15234665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56210830	chr7:15234671-15234672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114800878	chr7:15234672-15234673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115805557	chr7:15234674-15234675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541399260	chr7:15234690-15234691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572110425	chr7:15234692-15234693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10237122	chr7:15234715-15234716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557692694	chr7:15234765-15234766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73275387	chr7:15234792-15234793	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191065877	chr7:15234794-15234795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563696233	chr7:15234799-15234800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370541111	chr7:15234851-15234852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529380078	chr7:15234877-15234878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549064709	chr7:15234887-15234888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544397846	chr7:15234898-15234899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10282570	chr7:15234917-15234918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10266830	chr7:15234923-15234924	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73054505	chr7:15234964-15234965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs62448918	chr7:15234965-15234966	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138573715	chr7:15234974-15234975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73054506	chr7:15234977-15234978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536396399	chr7:15234982-15234983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149303654	chr7:15234988-15234989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572931796	chr7:15234999-15235000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186425794	chr7:15235042-15235043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558238999	chr7:15235052-15235053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578207658	chr7:15235064-15235065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371918791	chr7:15235075-15235076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62448919	chr7:15235077-15235078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369255555	chr7:15235081-15235082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144529675	chr7:15235082-15235083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542772625	chr7:15235104-15235105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559424859	chr7:15235127-15235128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371133006	chr7:15235128-15235129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528552481	chr7:15235136-15235137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6944905	chr7:15235144-15235145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73054507	chr7:15235146-15235147	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370385285	chr7:15235159-15235160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550867905	chr7:15235163-15235164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547507055	chr7:15235191-15235192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550596254	chr7:15235224-15235225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15234400-15234600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:15234400-15235200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr7:15234600-15234800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:15234600-15236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:15235000-15236200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:15235000-15237200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:15235200-15235600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:15236000-15236400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:15236200-15236800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:15236200-15238600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:15236200-15238600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:15236400-15236600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:15236400-15237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:15236600-15237200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:15236600-15237200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:15236600-15238800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:15236800-15237200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:15236800-15238000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:15237000-15237400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:15237200-15238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:15237200-15238200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:15237200-15238400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:15237200-15238800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:15237200-15239000	Enhancers	NHDF-Ad	bronchial
25	chr7:15237200-15241000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:15237400-15238400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:15237400-15239200	Enhancers	Osteobl	bone
28	chr7:15237800-15238200	Enhancers	Hela-S3	cervix
29	chr7:15237800-15238600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:15237800-15238600	Enhancers	Brain Substantia Nigra	brain
31	chr7:15237800-15238600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:15237800-15238800	Enhancers	Brain Hippocampus Middle	brain
33	chr7:15237800-15239400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:15238000-15238600	Enhancers	Fetal Muscle Leg	muscle
35	chr7:15238000-15238800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:15238000-15238800	Enhancers	NH-A	brain
37	chr7:15238000-15239000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:15238000-15239000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:15238000-15239000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:15238200-15238400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:15238200-15238600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:15238200-15238800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:15238200-15238800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:15238400-15239000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:15238400-15239000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:15238400-15239000	Enhancers	NHEK	skin
47	chr7:15238400-15239200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:15238400-15239400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:15238600-15239400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:15238800-15249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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