Variant report

Variant	nsv977841
Chromosome Location	chr15:34204739-34224060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34215496..34217980-chr15:34219492..34221807,2	K562	blood:
2	chr15:34215496..34217980-chr15:34219492..34221807,2	K562	blood:
3	chr15:34224044..34225662-chr15:34226786..34229394,2	MCF-7	breast:

Extended variants
information (count: 802 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:802 , 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	rs541359668	chr15:34204747-34204748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533201239	chr15:34204826-34204827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577868995	chr15:34204848-34204849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550278230	chr15:34204857-34204858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567820042	chr15:34204886-34204887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545591800	chr15:34204936-34204937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190782640	chr15:34204983-34204984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531479370	chr15:34205060-34205061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201245067	chr15:34205090-34205091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549587907	chr15:34205104-34205105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557741470	chr15:34205105-34205106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183087737	chr15:34205121-34205122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2632081	chr15:34205135-34205136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141676621	chr15:34205152-34205153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150100047	chr15:34205238-34205239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553566352	chr15:34205298-34205299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565986041	chr15:34205309-34205310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539316006	chr15:34205335-34205336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567048820	chr15:34205337-34205338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551594475	chr15:34205351-34205352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569749417	chr15:34205384-34205385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138355251	chr15:34205399-34205400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555425940	chr15:34205456-34205457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368015476	chr15:34205471-34205472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28693964	chr15:34205480-34205481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs28556761	chr15:34205487-34205488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187816709	chr15:34205513-34205514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577957819	chr15:34205604-34205605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149432903	chr15:34205623-34205624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34019569	chr15:34205633-34205634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563932982	chr15:34205653-34205654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16958327	chr15:34205716-34205717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552311140	chr15:34205761-34205762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543170331	chr15:34205762-34205763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561784896	chr15:34205774-34205775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191964796	chr15:34205799-34205800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541039257	chr15:34205855-34205856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559383184	chr15:34205865-34205866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552235759	chr15:34205975-34205976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377270014	chr15:34205983-34205984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550405488	chr15:34206002-34206003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184430995	chr15:34206031-34206032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375949674	chr15:34206040-34206041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551365942	chr15:34206066-34206067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58783870	chr15:34206081-34206082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140104059	chr15:34206275-34206276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538011859	chr15:34206297-34206298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548740212	chr15:34206309-34206310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567431073	chr15:34206310-34206311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77898265	chr15:34206337-34206338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34199600-34220800	Weak transcription	Right Atrium	heart
2	chr15:34201600-34207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:34201600-34208000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:34202000-34207600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:34203000-34207600	Weak transcription	GM12878-XiMat	blood
6	chr15:34203600-34205000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr15:34203600-34205400	Weak transcription	HUVEC	blood vessel
8	chr15:34203600-34205400	Weak transcription	Osteobl	bone
9	chr15:34203600-34205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:34203600-34207600	Weak transcription	Hela-S3	cervix
11	chr15:34203600-34207600	Weak transcription	HMEC	breast
12	chr15:34203600-34207600	Weak transcription	NHEK	skin
13	chr15:34203600-34207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:34203600-34207800	Weak transcription	HSMMtube	muscle
15	chr15:34203800-34207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:34203800-34207800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:34203800-34208000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:34204000-34211800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:34204200-34205000	Enhancers	Fetal Kidney	kidney
20	chr15:34204400-34208000	Weak transcription	A549	lung
21	chr15:34204600-34205000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr15:34204600-34205600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:34205000-34205400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:34205000-34208000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:34205400-34205800	Enhancers	Osteobl	bone
26	chr15:34205400-34206000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:34205400-34206200	Enhancers	HUVEC	blood vessel
28	chr15:34205600-34206200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:34205600-34206200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:34205800-34207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:34206000-34207800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:34206200-34207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:34207200-34208200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:34207400-34208200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr15:34207400-34208400	Enhancers	Esophagus	oesophagus
36	chr15:34207400-34208600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:34207600-34207800	Enhancers	Hela-S3	cervix
38	chr15:34207600-34207800	Enhancers	K562	blood
39	chr15:34207600-34208200	Enhancers	Duodenum Mucosa	Duodenum
40	chr15:34207600-34208200	Enhancers	Fetal Intestine Large	intestine
41	chr15:34207600-34208200	Enhancers	Fetal Intestine Small	intestine
42	chr15:34207600-34208200	Enhancers	Psoas Muscle	Psoas
43	chr15:34207600-34208400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:34207600-34208400	Enhancers	Stomach Mucosa	stomach
45	chr15:34207600-34208600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:34207600-34208600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr15:34207600-34208600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr15:34207600-34208600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr15:34207600-34208600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr15:34207600-34208600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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