Variant report

Variant	nsv977797
Chromosome Location	chr15:79029383-79031049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1383634	chr15:79029396-79029397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143907570	chr15:79029411-79029412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531295873	chr15:79029436-79029437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564815949	chr15:79029437-79029438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141100659	chr15:79029439-79029440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148191387	chr15:79029466-79029467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1825086	chr15:79029492-79029493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs187538735	chr15:79029499-79029500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1383635	chr15:79029511-79029512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs551058855	chr15:79029512-79029513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568971816	chr15:79029519-79029520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200222175	chr15:79029574-79029575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5813936	chr15:79029575-79029576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377075453	chr15:79029576-79029577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1904920	chr15:79029587-79029588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10152536	chr15:79029627-79029628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142675933	chr15:79029635-79029636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12906171	chr15:79029640-79029641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs555341232	chr15:79029652-79029653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192629483	chr15:79029680-79029681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537601794	chr15:79029700-79029701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2219939	chr15:79029723-79029724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
23	rs577808825	chr15:79029746-79029747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545049917	chr15:79029771-79029772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546084334	chr15:79029791-79029792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111884069	chr15:79029808-79029809	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs572032929	chr15:79029817-79029818	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs112742937	chr15:79029818-79029819	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs540941445	chr15:79029846-79029847	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs562195818	chr15:79029864-79029865	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs529502082	chr15:79029867-79029868	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs60707253	chr15:79029875-79029876	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs199528034	chr15:79029878-79029879	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs184983081	chr15:79029893-79029894	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs544471900	chr15:79029920-79029921	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs34552906	chr15:79029939-79029940	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs35741852	chr15:79029943-79029944	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs183846671	chr15:79029953-79029954	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs551395719	chr15:79029960-79029961	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs566544997	chr15:79029971-79029972	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs527658966	chr15:79029978-79029979	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs549268224	chr15:79029979-79029980	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs149742287	chr15:79029980-79029981	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs145595029	chr15:79029989-79029990	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs187091954	chr15:79029995-79029996	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs60607498	chr15:79030005-79030006	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs56953753	chr15:79030015-79030016	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs12901228	chr15:79030049-79030050	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571398473	chr15:79030052-79030053	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs538751335	chr15:79030053-79030054	Weak transcription Bivalent Enhancer	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79028000-79030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:79029600-79029800	Enhancers	Spleen	Spleen
3	chr15:79029800-79030800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr15:79029800-79032800	Weak transcription	Spleen	Spleen
5	chr15:79030200-79030600	Enhancers	Stomach Smooth Muscle	stomach
6	chr15:79030400-79030600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr15:79030400-79030600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr15:79030400-79030600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:79030400-79030600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:79030400-79030600	Enhancers	Right Ventricle	heart
11	chr15:79030400-79030600	Flanking Active TSS	K562	blood
12	chr15:79030400-79030800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:79030400-79030800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:79030400-79030800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:79030400-79030800	Enhancers	Placenta	Placenta
16	chr15:79030400-79031000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:79030400-79031000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:79030400-79031000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:79030600-79030800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:79030600-79031000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr15:79030600-79032400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:79030600-79032600	Weak transcription	Right Ventricle	heart
23	chr15:79030600-79032600	Weak transcription	K562	blood
24	chr15:79030800-79031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:79030800-79031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:79030800-79032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:79031000-79031400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:79031000-79032600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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