Variant report

Variant	nsv518214
Chromosome Location	chr15:76260430-76283942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76273857..76276988-chr15:76280414..76283734,4	K562	blood:
2	chr15:76277087..76279426-chr15:76280170..76283503,3	K562	blood:
3	chr15:76273577..76275608-chr15:76284248..76285874,2	K562	blood:
4	chr15:76277087..76279426-chr15:76280170..76283503,3	K562	blood:
5	chr15:76281243..76283320-chr15:76303334..76305949,2	K562	blood:
6	chr15:76273857..76276988-chr15:76280414..76283734,4	K562	blood:
7	chr15:76234349..76236125-chr15:76276845..76279711,2	K562	blood:

Variant related genes	Relation type
ENSG00000169752	chromatin interactions

Extended variants
information (count: 435 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17428804	chr15:76260430-76260431	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs41421144	chr15:76260491-76260492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs371675558	chr15:76260512-76260513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549992766	chr15:76260513-76260514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16967747	chr15:76260553-76260554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs74024032	chr15:76260574-76260575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569016512	chr15:76260610-76260611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533037719	chr15:76260624-76260625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56275613	chr15:76260629-76260630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11633792	chr15:76260643-76260644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551634886	chr15:76260652-76260653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28561728	chr15:76260704-76260705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534097878	chr15:76260710-76260711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111246268	chr15:76260726-76260727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567542708	chr15:76260727-76260728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77162775	chr15:76260924-76260925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74437636	chr15:76260928-76260929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71140190	chr15:76260947-76260948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2947239	chr15:76260981-76260982	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs556917571	chr15:76261016-76261017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2469039	chr15:76261083-76261084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368923312	chr15:76261106-76261107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572713819	chr15:76261119-76261120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79798377	chr15:76261153-76261154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2469040	chr15:76261237-76261238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs573308601	chr15:76261272-76261273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536290321	chr15:76261385-76261386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540929162	chr15:76261424-76261425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562282586	chr15:76261490-76261491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575068145	chr15:76261553-76261554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529584758	chr15:76261581-76261582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544254166	chr15:76261647-76261648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74024035	chr15:76261747-76261748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533075031	chr15:76261751-76261752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372889226	chr15:76261765-76261766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554260314	chr15:76261813-76261814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138331040	chr15:76261823-76261824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527534434	chr15:76261884-76261885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549157962	chr15:76261899-76261900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149454492	chr15:76261929-76261930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375045532	chr15:76261982-76261983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs985849	chr15:76261993-76261994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs550579460	chr15:76262057-76262058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72734565	chr15:76262069-76262070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79597155	chr15:76262125-76262126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143907259	chr15:76262139-76262140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148632226	chr15:76262208-76262209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75954441	chr15:76262348-76262349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555903279	chr15:76262386-76262387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183604254	chr15:76262606-76262607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76249800-76262800	Weak transcription	Gastric	stomach
2	chr15:76257400-76262800	Weak transcription	Pancreas	Pancrea
3	chr15:76259000-76263200	Weak transcription	Hela-S3	cervix
4	chr15:76259600-76260600	Weak transcription	Placenta	Placenta
5	chr15:76260800-76261000	Enhancers	Placenta	Placenta
6	chr15:76262800-76263200	Genic enhancers	Gastric	stomach
7	chr15:76262800-76263200	Enhancers	Pancreas	Pancrea
8	chr15:76263200-76263800	Weak transcription	Gastric	stomach
9	chr15:76271200-76271600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:76273400-76273600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr15:76273800-76274000	Enhancers	Pancreas	Pancrea
12	chr15:76273800-76274800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:76274000-76290000	Weak transcription	Pancreas	Pancrea
14	chr15:76274800-76275200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:76274800-76275200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr15:76274800-76275400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:76275000-76275200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:76275000-76275400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr15:76275000-76275400	Enhancers	Placenta	Placenta
20	chr15:76275400-76277000	Weak transcription	Placenta	Placenta
21	chr15:76276600-76295000	Weak transcription	Hela-S3	cervix
22	chr15:76277000-76277800	Enhancers	Placenta	Placenta
23	chr15:76277200-76277600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr15:76277800-76279400	Weak transcription	Placenta	Placenta
25	chr15:76279400-76281400	Enhancers	Placenta	Placenta
26	chr15:76279800-76280200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:76280600-76280800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:76280800-76282200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:76281400-76282200	Weak transcription	Placenta	Placenta
30	chr15:76282200-76282800	Enhancers	Placenta	Placenta
31	chr15:76282200-76282800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr15:76282800-76286600	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links