Variant report

Variant	nsv974602
Chromosome Location	chr15:76764286-76765752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:76764300-76764450	HCPEpiC	choroid plexus:	n/a	chr15:76764386-76764399
2	MXI1	chr15:76764282-76764381	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:76765148-76765293	ProgFib	skin:	n/a	n/a
4	POLR2A	chr15:76765330-76765414	ProgFib	skin:	n/a	n/a
5	STAT1	chr15:76765162-76765706	Hela-S3	cervix:	n/a	chr15:76765383-76765394 chr15:76765443-76765457 chr15:76765446-76765455 chr15:76765440-76765460 chr15:76765440-76765460 chr15:76765445-76765454
6	TEAD4	chr15:76764222-76764591	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ISL2-4	chr15:76764440-76764706	NONHSAT047405

Variant related genes	Relation type
ENSG00000261232	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186240321	chr15:76764379-76764380	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142426719	chr15:76764399-76764400	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532995483	chr15:76764400-76764401	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs77430099	chr15:76764428-76764429	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546901300	chr15:76764465-76764466	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs157782	chr15:76764475-76764476	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373040204	chr15:76764502-76764503	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs34282781	chr15:76764503-76764504	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs139665954	chr15:76764504-76764505	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs535288650	chr15:76764510-76764511	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550792488	chr15:76764527-76764528	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs547383214	chr15:76764535-76764536	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs537555417	chr15:76764556-76764557	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs558650123	chr15:76764716-76764717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543107362	chr15:76764728-76764729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534727932	chr15:76764739-76764740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553227408	chr15:76764755-76764756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191959385	chr15:76764773-76764774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11072598	chr15:76764788-76764789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs563912292	chr15:76764794-76764795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575223858	chr15:76764800-76764801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113155571	chr15:76764867-76764868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564204938	chr15:76764879-76764880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545019083	chr15:76764913-76764914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144670731	chr15:76764927-76764928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561954179	chr15:76764941-76764942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186034728	chr15:76764988-76764989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147905381	chr15:76765032-76765033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569054152	chr15:76765072-76765073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190513831	chr15:76765095-76765096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549039690	chr15:76765192-76765193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368085183	chr15:76765198-76765199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570637107	chr15:76765204-76765205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566071980	chr15:76765218-76765219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs157783	chr15:76765239-76765240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs568369092	chr15:76765280-76765281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536171220	chr15:76765281-76765282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141714075	chr15:76765302-76765303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183118937	chr15:76765308-76765309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187805200	chr15:76765330-76765331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17364330	chr15:76765385-76765386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs557883844	chr15:76765391-76765392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150461710	chr15:76765403-76765404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530471722	chr15:76765419-76765420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540194913	chr15:76765476-76765477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561668825	chr15:76765485-76765486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367831370	chr15:76765491-76765492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571882629	chr15:76765500-76765501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529147048	chr15:76765514-76765515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536558502	chr15:76765515-76765516	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
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
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76711600-76767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:76725800-76812600	Weak transcription	Left Ventricle	heart
3	chr15:76753800-76764400	Weak transcription	Fetal Intestine Large	intestine
4	chr15:76754000-76764400	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:76754800-76764400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:76755600-76764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:76757800-76765200	Weak transcription	Aorta	Aorta
8	chr15:76758400-76765600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:76758800-76764400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:76758800-76765000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:76758800-76765200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:76759200-76764400	Weak transcription	Psoas Muscle	Psoas
13	chr15:76759400-76764400	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:76759800-76770400	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:76760000-76772600	Weak transcription	GM12878-XiMat	blood
16	chr15:76760400-76773800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:76761200-76764800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:76761400-76765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:76762000-76771400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:76762400-76765200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:76762800-76764400	Weak transcription	Dnd41	blood
22	chr15:76762800-76764600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr15:76762800-76765400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:76762800-76765600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:76762800-76771200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:76763000-76764600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:76763000-76764600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:76763000-76768200	Weak transcription	Ovary	ovary
29	chr15:76763000-76768600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:76763000-76795000	Weak transcription	Primary B cells from cord blood	blood
31	chr15:76763200-76765000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:76763200-76770200	Weak transcription	Adipose Nuclei	Adipose
33	chr15:76763400-76765000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:76763400-76765000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:76763400-76765000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:76763400-76767200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:76763600-76765800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:76763600-76775200	Weak transcription	Liver	Liver
39	chr15:76764000-76764600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:76764200-76766000	Weak transcription	Primary T cells from cord blood	blood
41	chr15:76764200-76766000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:76764200-76767000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:76765600-76765800	Enhancers	Stomach Smooth Muscle	stomach

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