Variant report

Variant	nsv599180
Chromosome Location	chr5:100948178-101003812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100977296..100978177-chr5:101426469..101427113,2	MCF-7	breast:
2	chr5:100950934..100952627-chr5:101023886..101026706,2	K562	blood:
3	chr5:100975709..100978328-chr5:100978773..100981242,2	MCF-7	breast:
4	chr17:29120759..29121705-chr5:100998835..100999505,2	MCF-7	breast:
5	chr5:100977422..100978164-chr5:101014049..101014730,4	MCF-7	breast:
6	chr5:100975709..100978328-chr5:100978773..100981242,2	MCF-7	breast:

Extended variants
information (count: 985 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:985 , 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	rs17137638	chr5:100948178-100948179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113468410	chr5:100948198-100948199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533860042	chr5:100948202-100948203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7700280	chr5:100948203-100948204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189926005	chr5:100948208-100948209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114325776	chr5:100948225-100948226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564160231	chr5:100948255-100948256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7734099	chr5:100948257-100948258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575886037	chr5:100948258-100948259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542689740	chr5:100948268-100948269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115902679	chr5:100948287-100948288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183307453	chr5:100948350-100948351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547080945	chr5:100948411-100948412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75456344	chr5:100948456-100948457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532296445	chr5:100948457-100948458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60028255	chr5:100948478-100948479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115949911	chr5:100948500-100948501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536528448	chr5:100948516-100948517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145353685	chr5:100948522-100948523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112025613	chr5:100948532-100948533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13188771	chr5:100948545-100948546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
22	rs28540396	chr5:100948596-100948597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs5869976	chr5:100951512-100951513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557512667	chr5:100951513-100951514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576310522	chr5:100951546-100951547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543321258	chr5:100951553-100951554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192668323	chr5:100951569-100951570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3846607	chr5:100951617-100951618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374984547	chr5:100951620-100951621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185083749	chr5:100951636-100951637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187537189	chr5:100951676-100951677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148448913	chr5:100951707-100951708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146544763	chr5:100951718-100951719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544436204	chr5:100951733-100951734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533045781	chr5:100951778-100951779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7717053	chr5:100951781-100951782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117089111	chr5:100951877-100951878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532047601	chr5:100951883-100951884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192788024	chr5:100951935-100951936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550509818	chr5:100951967-100951968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79985725	chr5:100951974-100951975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184416906	chr5:100951993-100951994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565868961	chr5:100951995-100951996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539523965	chr5:100952048-100952049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7721236	chr5:100952057-100952058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs77873544	chr5:100952058-100952059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537357451	chr5:100952127-100952128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7734671	chr5:100952133-100952134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111489974	chr5:100952138-100952139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189222507	chr5:100952198-100952199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100948000-100948600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:100951400-100951800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:100951600-100952800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:100951800-100952800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100952800-100953200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:100960400-100962200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:100960600-100962200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:100961400-100961600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:100961400-100962200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:100961400-100962800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:100961400-100963000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:100961400-100964800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:100961400-100965200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:100961800-100962200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:100962000-100962800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:100962200-100962600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:100962200-100962800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:100962200-100962800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:100962200-100962800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:100962200-100962800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:100962200-100962800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:100962200-100963200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:100962400-100962800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:100962800-100963800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:100962800-100964000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:100962800-100965000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:100962800-100965200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:100962800-100965200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:100963000-100963200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:100963000-100963400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:100963200-100964000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:100963200-100964800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:100963400-100964200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:100963400-100964200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:100963400-100965200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:100963800-100964400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr5:100964000-100964200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:100964000-100964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:100964400-100965000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:100964600-100964800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:100964800-100967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:100965000-100965200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:100965200-100967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:100967600-100968200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr5:100967600-100969000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:100977800-100978200	Enhancers	A549	lung
47	chr5:100978600-100979000	Enhancers	Fetal Lung	lung
48	chr5:100978600-100979200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:100978600-100979800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:100983200-100983800	Enhancers	Adipose Nuclei	Adipose

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