Variant report

Variant	nsv1031450
Chromosome Location	chr7:85547679-85583028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:85556969..85559949-chr7:85562063..85564200,2	K562	blood:
2	chr12:69430934..69431671-chr7:85582454..85583032,2	MCF-7	breast:
3	chr7:85556969..85559949-chr7:85562063..85564200,2	K562	blood:
4	chr7:85564186..85565687-chr8:22597359..22599914,2	MCF-7	breast:

Extended variants
information (count: 686 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186485452	chr7:85549210-85549211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143061739	chr7:85549243-85549244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192498137	chr7:85549245-85549246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79808318	chr7:85549250-85549251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138747055	chr7:85549323-85549324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113226858	chr7:85549345-85549346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564111774	chr7:85549347-85549348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142515159	chr7:85549368-85549369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183726323	chr7:85549406-85549407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146842258	chr7:85549441-85549442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575698246	chr7:85549444-85549445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548030555	chr7:85549465-85549466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61129190	chr7:85549485-85549486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533684791	chr7:85549504-85549505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370196235	chr7:85549533-85549534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139339084	chr7:85549541-85549542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570323310	chr7:85549573-85549574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141601197	chr7:85549576-85549577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76132070	chr7:85549577-85549578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12154981	chr7:85549585-85549586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79028217	chr7:85549668-85549669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553942740	chr7:85549717-85549718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572099303	chr7:85549726-85549727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545975290	chr7:85549749-85549750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371578243	chr7:85549750-85549751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564825379	chr7:85549929-85549930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557807595	chr7:85549956-85549957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150483483	chr7:85549981-85549982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543469429	chr7:85550036-85550037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138118559	chr7:85550050-85550051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188719356	chr7:85550079-85550080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541084164	chr7:85550148-85550149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201398301	chr7:85550221-85550222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140394007	chr7:85550224-85550225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192970508	chr7:85550228-85550229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533404100	chr7:85550254-85550255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540441176	chr7:85550274-85550275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185196409	chr7:85550286-85550287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551936845	chr7:85550293-85550294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs118026829	chr7:85550314-85550315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531082375	chr7:85550328-85550329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188862449	chr7:85550339-85550340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567281626	chr7:85550395-85550396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534796283	chr7:85550396-85550397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111379748	chr7:85550412-85550413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550560972	chr7:85550456-85550457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191750768	chr7:85550458-85550459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112434193	chr7:85550486-85550487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557911726	chr7:85550488-85550489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576424414	chr7:85550490-85550491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85549200-85549600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:85549600-85556800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:85553400-85553800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:85553400-85553800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:85553600-85554400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:85553800-85554200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:85553800-85554200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:85554000-85554200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:85554200-85554400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:85554200-85554400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:85554200-85554400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:85554200-85554400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:85554200-85556600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:85554400-85556600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:85554400-85556600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:85554400-85556600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:85554400-85556800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:85556400-85556600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:85556600-85557200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:85556600-85557200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:85556600-85557600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:85556600-85557800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:85556600-85557800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:85556600-85558400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:85556800-85557200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:85556800-85557800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:85556800-85559800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:85557000-85558000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr7:85557200-85557400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:85557200-85558000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:85557200-85558000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:85557200-85558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:85557600-85558600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr7:85557800-85558200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr7:85557800-85558400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:85557800-85558400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:85558000-85558800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:85558000-85558800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:85558000-85559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:85558200-85558800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:85558200-85559000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:85558400-85558800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:85558400-85559000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:85558400-85559400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:85558600-85559000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:85558600-85559200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:85558800-85560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:85558800-85560800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:85558800-85561200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:85559000-85559400	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links