Variant report

Variant	nsv977854
Chromosome Location	chr15:56583544-56599264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56584163..56586354-chr15:56587012..56588620,2	K562	blood:
2	chr15:56582054..56583561-chr15:56587969..56590161,2	MCF-7	breast:
3	chr15:56582054..56583561-chr15:56587969..56590161,2	MCF-7	breast:
4	chr15:56584163..56586354-chr15:56587012..56588620,2	K562	blood:
5	chr15:56587524..56588313-chr15:56720286..56721333,4	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560975423	chr15:56583544-56583545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78545621	chr15:56583551-56583552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369695210	chr15:56583571-56583572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375704171	chr15:56583610-56583611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565267240	chr15:56583648-56583649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180947258	chr15:56583675-56583676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529113535	chr15:56583686-56583687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115047956	chr15:56583767-56583768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183610455	chr15:56583796-56583797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530270218	chr15:56583826-56583827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550393395	chr15:56583864-56583865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150297669	chr15:56583872-56583873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34984801	chr15:56583897-56583898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532822879	chr15:56583898-56583899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551911619	chr15:56583905-56583906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565639986	chr15:56583909-56583910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534438410	chr15:56583941-56583942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55751021	chr15:56583957-56583958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554206313	chr15:56584025-56584026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2465973	chr15:56584060-56584061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs541896621	chr15:56584064-56584065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373168096	chr15:56584068-56584069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536893464	chr15:56584079-56584080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556729386	chr15:56584089-56584090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569144346	chr15:56584101-56584102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576761740	chr15:56584136-56584137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59808258	chr15:56584155-56584156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35187662	chr15:56584204-56584205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572364046	chr15:56584219-56584220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541168823	chr15:56584276-56584277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189498681	chr15:56584311-56584312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574975125	chr15:56584379-56584380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544062530	chr15:56584389-56584390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563847718	chr15:56584390-56584391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532713717	chr15:56584418-56584419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75555209	chr15:56584449-56584450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371445317	chr15:56584535-56584536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533918387	chr15:56584549-56584550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182557049	chr15:56584551-56584552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187174801	chr15:56584555-56584556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2718949	chr15:56584591-56584592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567856561	chr15:56584629-56584630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191999855	chr15:56584649-56584650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550389058	chr15:56584663-56584664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550971723	chr15:56584666-56584667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570597926	chr15:56584745-56584746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539361847	chr15:56584755-56584756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553185858	chr15:56584808-56584809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564590124	chr15:56584865-56584866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1579370	chr15:56584867-56584868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56582000-56584600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:56582400-56584800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:56582600-56584000	Weak transcription	Placenta	Placenta
4	chr15:56584000-56585600	Enhancers	Placenta	Placenta
5	chr15:56584600-56585200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:56584800-56585200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:56584800-56585200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr15:56585800-56586600	Enhancers	K562	blood
9	chr15:56588200-56588600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:56599200-56600800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr15:56599200-56600800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr15:56599200-56601000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr15:56599200-56601000	Enhancers	Brain Germinal Matrix	brain

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