Variant report

Variant	nsv984095
Chromosome Location	chr15:78971712-78972482
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	chr15:78970161..78972429-chr15:78973595..78976262,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563380452	chr15:78971726-78971727	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs547321791	chr15:78971738-78971739	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs565615320	chr15:78971760-78971761	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs564524269	chr15:78971769-78971770	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs116708967	chr15:78971817-78971818	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs192012928	chr15:78971823-78971824	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs576114088	chr15:78971878-78971879	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs552231932	chr15:78971881-78971882	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs575264440	chr15:78971890-78971891	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs35671203	chr15:78971935-78971936	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs368033566	chr15:78972039-78972040	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs576815761	chr15:78972075-78972076	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs144947800	chr15:78972092-78972093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs77163824	chr15:78972145-78972146	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs572799487	chr15:78972171-78972172	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs35582116	chr15:78972191-78972192	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs541526433	chr15:78972316-78972317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145763957	chr15:78972352-78972353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531765421	chr15:78972445-78972446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11856346	chr15:78972453-78972454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148945620	chr15:78972456-78972457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78964400-78972800	Weak transcription	Fetal Brain Female	brain
2	chr15:78965000-78973200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:78966200-78977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:78969400-78973200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:78969400-78978000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:78969600-78973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:78970200-78973200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:78970400-78973000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:78970400-78973000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:78970400-78973200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:78970600-78972800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr15:78971200-78972000	Enhancers	Liver	Liver
13	chr15:78971200-78973600	Enhancers	GM12878-XiMat	blood
14	chr15:78971400-78972000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:78971400-78972000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:78971400-78975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:78971600-78972000	Enhancers	Esophagus	oesophagus
18	chr15:78971600-78972000	Enhancers	HMEC	breast
19	chr15:78971600-78972200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:78971600-78972200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr15:78971800-78974600	Weak transcription	Spleen	Spleen
22	chr15:78971800-78975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:78972000-78973200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:78972000-78974400	Weak transcription	Esophagus	oesophagus
25	chr15:78972000-78975200	Enhancers	Fetal Brain Male	brain
26	chr15:78972000-78977400	Weak transcription	HMEC	breast
27	chr15:78972000-78980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:78972200-78972800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:78972400-78975200	Enhancers	Primary hematopoietic stem cells	blood
30	chr15:78972400-78975200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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