Variant report

Variant	nsv9264
Chromosome Location	chr15:51284722-51292261
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	CEBPB	chr15:51288894-51289247	IMR90	lung:	n/a	n/a
2	E2F4	chr15:51285877-51286056	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr15:51288982-51289144	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr15:51285747-51286118	MCF10A-Er-Src	breast:	n/a	chr15:51286023-51286034
5	FOS	chr15:51289755-51289801	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr15:51285788-51286085	MCF10A-Er-Src	breast:	n/a	chr15:51286023-51286034
7	FOS	chr15:51285710-51286092	MCF10A-Er-Src	breast:	n/a	chr15:51286023-51286034
8	FOS	chr15:51289096-51289157	MCF10A-Er-Src	breast:	n/a	n/a
9	IRF1	chr15:51290030-51290104	K562	blood:	n/a	n/a
10	MAFF	chr15:51289871-51290229	HepG2	liver:	n/a	chr15:51290037-51290055
11	MAFF	chr15:51289880-51290221	K562	blood:	n/a	chr15:51290037-51290055
12	MAFK	chr15:51289871-51290218	Hela-S3	cervix:	n/a	chr15:51290039-51290054
13	MAFK	chr15:51289866-51290214	HepG2	liver:	n/a	chr15:51290039-51290054
14	MAFK	chr15:51289906-51290177	H1-hESC	embryonic stem cell:	n/a	chr15:51290039-51290054
15	MAFK	chr15:51289862-51290214	IMR90	lung:	n/a	chr15:51290039-51290054
16	MAFK	chr15:51289871-51290212	K562	blood:	n/a	chr15:51290039-51290054
17	MAFK	chr15:51289865-51290232	HepG2	liver:	n/a	chr15:51290039-51290054
18	POLR2A	chr15:51291637-51291722	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr15:51287258-51287279	MCF-7	breast:	n/a	n/a
20	POLR2A	chr15:51287671-51287746	MCF-7	breast:	n/a	n/a
21	POLR2A	chr15:51290961-51291023	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr15:51287285-51287356	MCF-7	breast:	n/a	n/a
23	POLR2A	chr15:51287070-51287229	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr15:51285685-51286127	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr15:51288927-51289084	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr15:51285685-51286120	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr15:51285684-51286170	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr15:51285708-51286132	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr15:51288953-51289149	MCF10A-Er-Src	breast:	n/a	n/a
30	USF2	chr15:51285791-51285881	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51280912..51283602-chr15:51286320..51288596,2	MCF-7	breast:
2	chr15:51291205..51293586-chr15:51295026..51296629,2	MCF-7	breast:
3	chr15:51291454..51293095-chr15:51294731..51296517,2	K562	blood:

Variant related genes	Relation type
AP4E1	TF binding region

Extended variants
information (count: 269 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375920438	chr15:51284735-51284736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559581501	chr15:51284753-51284754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530115885	chr15:51284773-51284774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548242020	chr15:51284812-51284813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570383706	chr15:51284862-51284863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537705166	chr15:51284977-51284978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552891002	chr15:51284983-51284984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571085043	chr15:51284996-51284997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534903242	chr15:51285038-51285039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182999647	chr15:51285045-51285046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553073568	chr15:51285058-51285059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7180258	chr15:51285127-51285128	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535438434	chr15:51285171-51285172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556657478	chr15:51285341-51285342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188451689	chr15:51285441-51285442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545719182	chr15:51285456-51285457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370927451	chr15:51285489-51285490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376763584	chr15:51285524-51285525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369000416	chr15:51285558-51285559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371288194	chr15:51285590-51285591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150743968	chr15:51285625-51285626	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371993758	chr15:51285650-51285651	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147610187	chr15:51285661-51285662	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201935060	chr15:51285669-51285670	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375369084	chr15:51285674-51285675	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35442001	chr15:51285715-51285716	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs139497190	chr15:51285744-51285745	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs201040405	chr15:51285753-51285754	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369655688	chr15:51285763-51285764	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs145037780	chr15:51285811-51285812	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368382609	chr15:51285830-51285831	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112190952	chr15:51285832-51285833	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530906365	chr15:51285845-51285846	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs367653486	chr15:51285851-51285852	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs191640848	chr15:51285945-51285946	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs571150336	chr15:51285960-51285961	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs528697268	chr15:51285993-51285994	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs546834718	chr15:51286035-51286036	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs58571162	chr15:51286056-51286057	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56010315	chr15:51286093-51286094	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140169950	chr15:51286099-51286100	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs17646917	chr15:51286126-51286127	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184455186	chr15:51286164-51286165	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs547334338	chr15:51286225-51286226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559177267	chr15:51286246-51286247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188848244	chr15:51286275-51286276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557636868	chr15:51286443-51286444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192598330	chr15:51286466-51286467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540444155	chr15:51286509-51286510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185554130	chr15:51286536-51286537	Weak transcription Strong transcription	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
Autism	22495311	CNVD
Wilms tumour	21544195	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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51210600-51298400	Weak transcription	Stomach Mucosa	stomach
2	chr15:51261600-51295600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:51261600-51298200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:51263000-51304800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:51263600-51287200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:51263600-51293600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:51263600-51296400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:51263600-51297800	Weak transcription	NHLF	lung
9	chr15:51263600-51299200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:51263600-51300200	Weak transcription	Small Intestine	intestine
11	chr15:51263600-51301200	Weak transcription	HepG2	liver
12	chr15:51263600-51303000	Weak transcription	HUVEC	blood vessel
13	chr15:51263800-51296200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:51263800-51296600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:51263800-51300400	Weak transcription	Right Ventricle	heart
16	chr15:51264400-51294200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:51264600-51296600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:51265200-51292600	Weak transcription	Brain Angular Gyrus	brain
19	chr15:51265200-51296400	Weak transcription	Brain Germinal Matrix	brain
20	chr15:51265200-51302400	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:51265200-51315600	Weak transcription	Gastric	stomach
22	chr15:51265400-51302400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:51266200-51285800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:51266800-51285600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:51267000-51293200	Weak transcription	Fetal Lung	lung
26	chr15:51267000-51302200	Weak transcription	Fetal Brain Female	brain
27	chr15:51267200-51288600	Weak transcription	HMEC	breast
28	chr15:51267200-51289200	Weak transcription	Fetal Kidney	kidney
29	chr15:51267600-51296400	Weak transcription	Fetal Brain Male	brain
30	chr15:51267800-51296400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:51270200-51302600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:51270200-51317600	Weak transcription	Psoas Muscle	Psoas
33	chr15:51271600-51288600	Weak transcription	NHDF-Ad	bronchial
34	chr15:51273000-51296400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:51273400-51285600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:51273400-51285600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:51273400-51285600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:51273400-51288600	Weak transcription	Ovary	ovary
39	chr15:51273400-51296400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:51273400-51296400	Weak transcription	Esophagus	oesophagus
41	chr15:51273400-51298000	Weak transcription	Lung	lung
42	chr15:51273400-51302200	Weak transcription	Colonic Mucosa	Colon
43	chr15:51273400-51302400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:51273600-51288600	Weak transcription	Brain Anterior Caudate	brain
45	chr15:51273600-51289600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:51273600-51290200	Weak transcription	Dnd41	blood
47	chr15:51273600-51296800	Weak transcription	Spleen	Spleen
48	chr15:51273600-51298200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:51273600-51307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:51273800-51285600	Weak transcription	Fetal Muscle Trunk	muscle

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