Variant report

Variant	nsv889400
Chromosome Location	chr7:147650411-147712471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:147652480..147654051-chr7:147655733..147657360,2	K562	blood:
2	chr7:147680486..147683075-chr7:147685305..147687818,2	MCF-7	breast:
3	chr7:147672050..147673576-chr7:147678851..147681091,2	K562	blood:
4	chr7:147672050..147673576-chr7:147678851..147681091,2	K562	blood:
5	chr7:147680486..147683075-chr7:147685305..147687818,2	MCF-7	breast:
6	chr7:147652480..147654051-chr7:147655733..147657360,2	K562	blood:

Extended variants
information (count: 1344 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113907646	chr7:147665401-147665402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530802651	chr7:147665463-147665464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386719125	chr7:147665474-147665475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34347668	chr7:147665476-147665477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs67303822	chr7:147665482-147665483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10227736	chr7:147665505-147665506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565521105	chr7:147665517-147665518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184897163	chr7:147665519-147665520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189993244	chr7:147665546-147665547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557628781	chr7:147665556-147665557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577911894	chr7:147665632-147665633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371603291	chr7:147665646-147665647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145474870	chr7:147665657-147665658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573626776	chr7:147665658-147665659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148819248	chr7:147665698-147665699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117321339	chr7:147665699-147665700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193024486	chr7:147665701-147665702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545656552	chr7:147665724-147665725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561205733	chr7:147673801-147673802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117046256	chr7:147673812-147673813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192455960	chr7:147673838-147673839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12536614	chr7:147673934-147673935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200024717	chr7:147673942-147673943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112323123	chr7:147673945-147673946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558582809	chr7:147673946-147673947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397946320	chr7:147673951-147673952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34789982	chr7:147673952-147673953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539575116	chr7:147673974-147673975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552282667	chr7:147673988-147673989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369884991	chr7:147673999-147674000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2373283	chr7:147674047-147674048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73747304	chr7:147674050-147674051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554833930	chr7:147674102-147674103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73168529	chr7:147674107-147674108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150203587	chr7:147674133-147674134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553903141	chr7:147674162-147674163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577236183	chr7:147674163-147674164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545968127	chr7:147674190-147674191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10225015	chr7:147674647-147674648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539859774	chr7:147674650-147674651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184026509	chr7:147674673-147674674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10243319	chr7:147674678-147674679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73747305	chr7:147674683-147674684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs79688382	chr7:147674692-147674693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112601089	chr7:147674725-147674726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4296960	chr7:147674751-147674752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs560444949	chr7:147674752-147674753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191370217	chr7:147674798-147674799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549306241	chr7:147674877-147674878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184616612	chr7:147674879-147674880	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147665400-147665800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:147673800-147674200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:147674600-147676000	Enhancers	Fetal Lung	lung
4	chr7:147676000-147678200	Weak transcription	Fetal Lung	lung
5	chr7:147678000-147678400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:147678000-147679600	Enhancers	GM12878-XiMat	blood
7	chr7:147678200-147678600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:147678200-147678600	Enhancers	Fetal Lung	lung
9	chr7:147678400-147679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:147678600-147678800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:147678600-147679000	Enhancers	Adipose Nuclei	Adipose
12	chr7:147678800-147679000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:147679000-147679200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:147679000-147679400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:147679400-147679800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:147679400-147680000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:147679800-147681000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:147680800-147681400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:147681000-147683200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:147681600-147681800	Enhancers	Stomach Mucosa	stomach
21	chr7:147681800-147682800	Weak transcription	Stomach Mucosa	stomach
22	chr7:147682800-147683400	Enhancers	Stomach Mucosa	stomach
23	chr7:147683200-147685600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:147685600-147686000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:147685600-147688400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:147686400-147687200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:147687200-147696000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:147694800-147695000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:147695000-147695200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:147696000-147696200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:147696200-147696800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:147696600-147697800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:147696600-147698200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:147696800-147697400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:147696800-147697600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:147696800-147698000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:147696800-147698000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:147697000-147698200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:147697200-147698000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr7:147697200-147698200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:147697400-147697800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:147697800-147700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:147700200-147700400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:147708200-147709000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:147708600-147709200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:147708800-147709000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:147708800-147709200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:147709000-147709600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr7:147709200-147711400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:147709200-147717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links