Variant report

Variant	nsv984077
Chromosome Location	chr15:59337976-59344085
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	FOXA2	chr15:59341192-59341326	HepG2	liver:	n/a	n/a
2	IRF1	chr15:59338760-59338776	K562	blood:	n/a	n/a
3	POLR2A	chr15:59342191-59342287	K562	blood:	n/a	n/a
4	POLR2A	chr15:59339415-59339613	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:59341995-59342139	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:59338468-59338526	MCF-7	breast:	n/a	n/a
7	STAT3	chr15:59339872-59339910	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr15:59341797-59341878	MCF10A-Er-Src	breast:	n/a	n/a
9	TCF7L2	chr15:59338554-59338603	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59344021..59346985-chr15:59348905..59351426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241640	TF binding region

Extended variants
information (count: 240 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534467789	chr15:59338006-59338007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559300215	chr15:59338011-59338012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577662683	chr15:59338030-59338031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113436753	chr15:59338068-59338069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78464076	chr15:59338103-59338104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189743627	chr15:59338115-59338116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142735369	chr15:59338153-59338154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542382492	chr15:59338213-59338214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182406478	chr15:59338217-59338218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572962815	chr15:59338244-59338245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540475487	chr15:59338268-59338269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34914229	chr15:59338290-59338291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375198191	chr15:59338317-59338318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146990852	chr15:59338341-59338342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185389717	chr15:59338350-59338351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552617853	chr15:59338351-59338352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34047420	chr15:59338383-59338384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550595651	chr15:59338389-59338390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398027504	chr15:59338396-59338397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191566962	chr15:59338427-59338428	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183410144	chr15:59338453-59338454	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138026161	chr15:59338475-59338476	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527882684	chr15:59338476-59338477	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369292354	chr15:59338497-59338498	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11412501	chr15:59338528-59338529	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552897282	chr15:59338581-59338582	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571198041	chr15:59338598-59338599	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538618623	chr15:59338600-59338601	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372178063	chr15:59338611-59338612	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149547152	chr15:59338612-59338613	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144140273	chr15:59338628-59338629	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8043536	chr15:59338721-59338722	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111822217	chr15:59338728-59338729	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141972852	chr15:59338793-59338794	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559148970	chr15:59338797-59338798	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188854227	chr15:59338888-59338889	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371998265	chr15:59338903-59338904	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558414025	chr15:59338944-59338945	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1374156	chr15:59338945-59338946	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564640918	chr15:59338962-59338963	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544121496	chr15:59339017-59339018	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562505307	chr15:59339032-59339033	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530047610	chr15:59339041-59339042	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146294214	chr15:59339045-59339046	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560426104	chr15:59339062-59339063	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533825416	chr15:59339123-59339124	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139640186	chr15:59339135-59339136	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571080760	chr15:59339136-59339137	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144278641	chr15:59339147-59339148	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193009432	chr15:59339151-59339152	Weak transcription Genic enhancers 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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
3	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
4	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
7	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:59305400-59354400	Weak transcription	Gastric	stomach
10	chr15:59306000-59353400	Weak transcription	Fetal Heart	heart
11	chr15:59308400-59358000	Weak transcription	Spleen	Spleen
12	chr15:59309200-59359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:59323600-59359000	Weak transcription	Esophagus	oesophagus
14	chr15:59323800-59343000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:59323800-59347600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:59323800-59348400	Weak transcription	Brain Anterior Caudate	brain
17	chr15:59324000-59344600	Weak transcription	HMEC	breast
18	chr15:59324000-59345200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:59324000-59347800	Weak transcription	NHLF	lung
20	chr15:59324000-59350600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:59324000-59350600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:59324000-59351000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:59325000-59354800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:59325200-59344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:59325200-59345000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:59325200-59345800	Weak transcription	NHDF-Ad	bronchial
27	chr15:59325400-59344800	Weak transcription	NH-A	brain
28	chr15:59325400-59347800	Weak transcription	HSMMtube	muscle
29	chr15:59325400-59350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:59325400-59352000	Weak transcription	Fetal Lung	lung
31	chr15:59325600-59338600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:59325800-59344800	Weak transcription	Osteobl	bone
33	chr15:59325800-59345200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:59325800-59345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:59325800-59348800	Weak transcription	Fetal Kidney	kidney
36	chr15:59325800-59350600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:59326000-59345000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:59326000-59345400	Weak transcription	Adipose Nuclei	Adipose
39	chr15:59326400-59349400	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:59326400-59365200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:59326600-59344200	Weak transcription	K562	blood
42	chr15:59327000-59345200	Weak transcription	HSMM	muscle
43	chr15:59327600-59347800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:59327800-59341000	Weak transcription	HepG2	liver
45	chr15:59327800-59344800	Weak transcription	Dnd41	blood
46	chr15:59328000-59344200	Weak transcription	Liver	Liver
47	chr15:59328400-59348000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:59328800-59344200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:59328800-59350600	Weak transcription	Brain Germinal Matrix	brain
50	chr15:59329000-59340200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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