Variant report

Variant	nsv974560
Chromosome Location	chr15:40271109-40272266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40262166..40265065-chr15:40268835..40271155,2	K562	blood:
2	chr15:40256702..40259221-chr15:40268261..40271249,2	K562	blood:
3	chr15:40237266..40239005-chr15:40269380..40272206,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139322745	chr15:40271124-40271125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189884534	chr15:40271126-40271127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386783311	chr15:40271202-40271203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113440335	chr15:40271203-40271204	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2412455	chr15:40271204-40271205	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553701881	chr15:40271254-40271255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192786068	chr15:40271260-40271261	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56319775	chr15:40271271-40271272	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs8030505	chr15:40271281-40271282	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11631801	chr15:40271303-40271304	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs541891631	chr15:40271319-40271320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562383055	chr15:40271343-40271344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527997337	chr15:40271405-40271406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547933715	chr15:40271418-40271419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570964291	chr15:40271438-40271439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184883488	chr15:40271456-40271457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11632930	chr15:40271457-40271458	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs569010185	chr15:40271600-40271601	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537821986	chr15:40271630-40271631	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8035396	chr15:40271737-40271738	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs115430966	chr15:40271761-40271762	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533854631	chr15:40271789-40271790	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536702767	chr15:40271794-40271795	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553886765	chr15:40271862-40271863	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576624755	chr15:40271893-40271894	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553347377	chr15:40271908-40271909	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16970112	chr15:40271935-40271936	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139604548	chr15:40271946-40271947	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576157844	chr15:40271948-40271949	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117230694	chr15:40271961-40271962	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189191336	chr15:40271974-40271975	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73388549	chr15:40272032-40272033	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371500970	chr15:40272102-40272103	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541360615	chr15:40272105-40272106	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7175589	chr15:40272148-40272149	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs533554556	chr15:40272149-40272150	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564183561	chr15:40272179-40272180	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560826853	chr15:40272182-40272183	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531325340	chr15:40272233-40272234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74615656	chr15:40272257-40272258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181551010	chr15:40272259-40272260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
4	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:40253000-40273200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:40253000-40273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:40253200-40273200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr15:40257200-40272200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:40260800-40303400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:40261000-40277800	Weak transcription	A549	lung
17	chr15:40262600-40293800	Weak transcription	Stomach Mucosa	stomach
18	chr15:40265600-40271400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:40266400-40281800	Weak transcription	K562	blood
20	chr15:40266600-40278000	Weak transcription	GM12878-XiMat	blood
21	chr15:40267000-40278000	Weak transcription	Hela-S3	cervix
22	chr15:40267800-40278400	Weak transcription	Primary B cells from cord blood	blood
23	chr15:40269000-40271200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:40269000-40271400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:40269000-40272400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr15:40269000-40273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:40269000-40274600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:40269000-40277800	Weak transcription	Aorta	Aorta
29	chr15:40269000-40277800	Weak transcription	Gastric	stomach
30	chr15:40269000-40277800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:40269000-40278000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:40269000-40284800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:40269000-40293200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:40269000-40293200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:40269200-40273200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:40269200-40274200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:40269200-40274600	Strong transcription	NHEK	skin
38	chr15:40269200-40275800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:40269200-40277800	Weak transcription	Ovary	ovary
40	chr15:40269200-40277800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:40269200-40277800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr15:40269200-40277800	Weak transcription	Thymus	Thymus
43	chr15:40269200-40278000	Weak transcription	Left Ventricle	heart
44	chr15:40269200-40278000	Weak transcription	Pancreas	Pancrea
45	chr15:40269200-40278000	Weak transcription	Right Ventricle	heart
46	chr15:40269200-40278200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:40269200-40282000	Weak transcription	Esophagus	oesophagus
48	chr15:40269200-40283000	Weak transcription	Psoas Muscle	Psoas
49	chr15:40269400-40271400	Strong transcription	Osteobl	bone
50	chr15:40269400-40272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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