Variant report

Variant	nsv549191
Chromosome Location	chr1:215922860-215947408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215919175..215921011-chr1:215923507..215925193,2	K562	blood:
2	chr1:215938307..215941305-chr1:215949605..215951351,2	MCF-7	breast:

Extended variants
information (count: 826 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4595347	chr1:215922860-215922861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530311895	chr1:215922900-215922901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548845203	chr1:215922906-215922907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182847617	chr1:215922914-215922915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528100876	chr1:215922939-215922940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188309379	chr1:215922942-215922943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571464709	chr1:215922943-215922944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537687537	chr1:215922964-215922965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531626915	chr1:215922973-215922974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549849470	chr1:215923004-215923005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557492022	chr1:215923027-215923028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148750979	chr1:215923046-215923047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550460780	chr1:215923071-215923072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567165198	chr1:215923103-215923104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568028062	chr1:215923147-215923148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76215556	chr1:215923185-215923186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs55795725	chr1:215923192-215923193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191251736	chr1:215923196-215923197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539904685	chr1:215923235-215923236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538671731	chr1:215923249-215923250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558872056	chr1:215923321-215923322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs66533012	chr1:215923325-215923326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs398103686	chr1:215923326-215923327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553433678	chr1:215923327-215923328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11438993	chr1:215923332-215923333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544967938	chr1:215923374-215923375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561554288	chr1:215923411-215923412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573581969	chr1:215923440-215923441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575121032	chr1:215923491-215923492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540798570	chr1:215923545-215923546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182364671	chr1:215923615-215923616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58310282	chr1:215923633-215923634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563078597	chr1:215923635-215923636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142328369	chr1:215923639-215923640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564491499	chr1:215923673-215923674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567232825	chr1:215923700-215923701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530417994	chr1:215923732-215923733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116394721	chr1:215923736-215923737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567204015	chr1:215923758-215923759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147880784	chr1:215923788-215923789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546740755	chr1:215923799-215923800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187687522	chr1:215923811-215923812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141512409	chr1:215923813-215923814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558778517	chr1:215923856-215923857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115725475	chr1:215923927-215923928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538227829	chr1:215923929-215923930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145297684	chr1:215923992-215923993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192643274	chr1:215924006-215924007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79699450	chr1:215924010-215924011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185750371	chr1:215924069-215924070	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215921600-215923200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:215921800-215923200	Enhancers	NH-A	brain
3	chr1:215921800-215923600	Enhancers	NHDF-Ad	bronchial
4	chr1:215922000-215923200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:215922000-215923400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:215922200-215923600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:215922400-215923000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:215922400-215923200	Enhancers	Osteobl	bone
9	chr1:215922400-215923600	Enhancers	NHLF	lung
10	chr1:215922400-215923800	Enhancers	HSMM	muscle
11	chr1:215922600-215923400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:215922800-215923600	Enhancers	HSMMtube	muscle
13	chr1:215923200-215924000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:215924000-215924200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:215927400-215928200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:215928200-215928600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:215928200-215948800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:215939600-215942000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:215940000-215941200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:215940000-215943000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:215940000-215943200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:215940400-215941200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:215940400-215943000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:215940600-215942400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:215940800-215941200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:215941200-215941600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:215941200-215941600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:215941200-215949800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:215941600-215942400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:215941600-215943200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:215942000-215948200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:215942400-215942800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:215942400-215948800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:215942800-215943000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:215943000-215945400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:215943000-215948400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:215943200-215945200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:215943200-215948600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:215945000-215945800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:215945200-215946000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:215945400-215946000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:215945600-215945800	Enhancers	HMEC	breast
43	chr1:215945800-215950200	Weak transcription	HMEC	breast
44	chr1:215945800-215950600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:215946000-215949000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:215946000-215949400	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links