Variant report

Variant	nsv977699
Chromosome Location	chr15:35234125-35236181
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	EBF1	chr15:35235275-35235566	GM12878	blood:	n/a	n/a
2	EBF1	chr15:35235201-35235457	GM12878	blood:	n/a	n/a
3	HEY1	chr15:35235206-35235527	K562	blood:	n/a	n/a
4	IRF3	chr15:35236068-35236149	GM12878	blood:	n/a	n/a
5	IRF4	chr15:35235193-35235556	GM12878	blood:	n/a	n/a
6	NFIC	chr15:35234367-35234987	SK-N-SH	brain:	n/a	n/a
7	PAX5	chr15:35235196-35235470	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:35235237-35235440	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:35235171-35235602	GM12891	blood:	n/a	n/a
10	POLR2A	chr15:35235193-35235526	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:35235213-35235521	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:35235199-35235551	GM12892	blood:	n/a	n/a
13	POLR2A	chr15:35234346-35234426	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr15:35235189-35235439	GM12891	blood:	n/a	n/a
15	POLR2A	chr15:35235188-35235603	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:35234342-35234419	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:35234813-35235078	HepG2	liver:	n/a	n/a
18	POLR2A	chr15:35235209-35235452	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:35235169-35235560	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:35235189-35235623	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:35235160-35235668	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:35235192-35235527	GM12891	blood:	n/a	n/a
23	POLR2A	chr15:35235157-35235553	GM12891	blood:	n/a	n/a
24	POLR2A	chr15:35235140-35235746	H1-hESC	embryonic stem cell:	n/a	n/a
25	POU2F2	chr15:35235176-35235650	GM12878	blood:	n/a	n/a
26	ZBTB33	chr15:35235116-35235616	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000231409	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376351556	chr15:35234128-35234129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16960140	chr15:35234130-35234131	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368060361	chr15:35234147-35234148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371506950	chr15:35234162-35234163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377148679	chr15:35234163-35234164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375063974	chr15:35234166-35234167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556452860	chr15:35234170-35234171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370035629	chr15:35234235-35234236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116447981	chr15:35234262-35234263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376460301	chr15:35234265-35234266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369380990	chr15:35234291-35234292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544665032	chr15:35234356-35234357	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs188822826	chr15:35234373-35234374	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs191744886	chr15:35234415-35234416	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555082398	chr15:35234436-35234437	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542821031	chr15:35234440-35234441	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150363532	chr15:35234453-35234454	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs9806459	chr15:35234506-35234507	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528139651	chr15:35234525-35234526	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546683983	chr15:35234529-35234530	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9806300	chr15:35234578-35234579	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185012014	chr15:35234582-35234583	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369194500	chr15:35234670-35234671	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs373902584	chr15:35234693-35234694	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542316036	chr15:35234732-35234733	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376948151	chr15:35234738-35234739	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550200606	chr15:35234759-35234760	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189473105	chr15:35234794-35234795	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs143953585	chr15:35234805-35234806	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs548462175	chr15:35234851-35234852	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs9806487	chr15:35234877-35234878	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181069064	chr15:35234897-35234898	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs140370938	chr15:35234917-35234918	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs185909971	chr15:35234931-35234932	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538228251	chr15:35234932-35234933	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs9806284	chr15:35234957-35234958	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575581472	chr15:35234986-35234987	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369452578	chr15:35235032-35235033	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545271118	chr15:35235078-35235079	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs565268194	chr15:35235094-35235095	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572995401	chr15:35235180-35235181	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111702666	chr15:35235235-35235236	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373190422	chr15:35235262-35235263	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs542452319	chr15:35235263-35235264	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs540097932	chr15:35235268-35235269	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376709318	chr15:35235269-35235270	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564981622	chr15:35235274-35235275	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368806795	chr15:35235282-35235283	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377264878	chr15:35235290-35235291	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189488576	chr15:35235296-35235297	Weak transcription Strong transcription Enhancers Genic enhancers	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
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
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35186400-35238800	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:35197600-35238800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:35198800-35261200	Weak transcription	Esophagus	oesophagus
4	chr15:35207000-35234600	Weak transcription	Stomach Mucosa	stomach
5	chr15:35207000-35259400	Weak transcription	Small Intestine	intestine
6	chr15:35207400-35239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:35213800-35235400	Strong transcription	Liver	Liver
8	chr15:35213800-35238800	Strong transcription	Placenta	Placenta
9	chr15:35213800-35238800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr15:35214000-35238200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr15:35214200-35237600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:35214200-35238000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:35214200-35238200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:35215800-35238800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:35216800-35236600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:35217000-35237000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr15:35217000-35238600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr15:35217200-35234600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:35217200-35238200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:35217400-35237000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr15:35217400-35238200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr15:35217400-35238400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:35217400-35238400	Strong transcription	Adipose Nuclei	Adipose
24	chr15:35218000-35238200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:35218400-35234800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:35218600-35238400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr15:35218600-35238400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr15:35219600-35235000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:35219600-35238200	Strong transcription	Fetal Intestine Large	intestine
30	chr15:35220000-35238800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:35220200-35234200	Weak transcription	Brain Substantia Nigra	brain
32	chr15:35220600-35260200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:35220800-35239800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:35220800-35251400	Weak transcription	Aorta	Aorta
35	chr15:35221000-35238400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:35221200-35238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:35221200-35260800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:35221800-35236800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:35222000-35234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr15:35222000-35235000	Strong transcription	NHDF-Ad	bronchial
41	chr15:35222400-35238400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:35222800-35242600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr15:35223400-35260600	Weak transcription	Fetal Heart	heart
44	chr15:35224000-35234600	Weak transcription	Pancreas	Pancrea
45	chr15:35224200-35238000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:35224200-35251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:35224200-35258800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr15:35224400-35234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:35225200-35250400	Weak transcription	Spleen	Spleen
50	chr15:35225200-35251400	Weak transcription	Colonic Mucosa	Colon

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