Variant report

Variant	nsv977715
Chromosome Location	chr15:51158534-51165600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50978313..50981210-chr15:51164383..51166908,3	MCF-7	breast:
2	chr15:51056114..51059435-chr15:51164290..51170662,7	MCF-7	breast:
3	chr15:50977850..50980185-chr15:51163630..51165547,2	MCF-7	breast:
4	chr15:50890276..50891931-chr15:51161481..51164430,2	K562	blood:
5	chr15:51164794..51166513-chr15:51178274..51180679,2	MCF-7	breast:
6	chr15:51057679..51059262-chr15:51160904..51163166,2	MCF-7	breast:
7	chr15:51151080..51153044-chr15:51158473..51161213,2	K562	blood:
8	chr15:51056355..51060278-chr15:51155498..51158542,4	MCF-7	breast:
9	chr15:50990590..50993548-chr15:51161055..51163401,2	MCF-7	breast:
10	chr15:51150599..51153395-chr15:51160493..51163447,2	MCF-7	breast:
11	chr15:51055486..51061183-chr15:51164859..51169908,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000092439	chromatin interactions
ENSG00000243027	chromatin interactions
ENSG00000138600	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:224 , 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	rs545712696	chr15:51158647-51158648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536395741	chr15:51158682-51158683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548758129	chr15:51158720-51158721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569805015	chr15:51158775-51158776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562779279	chr15:51158865-51158866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183901467	chr15:51158878-51158879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189025637	chr15:51158946-51158947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576279346	chr15:51158951-51158952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534932699	chr15:51158952-51158953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144167909	chr15:51158977-51158978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571304974	chr15:51158991-51158992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574673979	chr15:51159000-51159001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541699507	chr15:51159065-51159066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534076697	chr15:51159328-51159329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539684647	chr15:51159335-51159336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563129385	chr15:51159352-51159353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28776322	chr15:51159386-51159387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369245581	chr15:51159416-51159417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74959066	chr15:51159417-51159418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564955496	chr15:51159448-51159449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181421728	chr15:51159464-51159465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71426049	chr15:51159485-51159486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398043283	chr15:51159486-51159487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185729454	chr15:51159499-51159500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559838935	chr15:51159526-51159527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144916562	chr15:51159555-51159556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190207475	chr15:51159648-51159649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373045152	chr15:51159656-51159657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368145407	chr15:51159720-51159721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537165029	chr15:51159751-51159752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375590505	chr15:51159773-51159774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552266884	chr15:51159784-51159785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145890052	chr15:51159793-51159794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182394345	chr15:51159824-51159825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148975221	chr15:51159826-51159827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534189351	chr15:51159827-51159828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568299786	chr15:51159832-51159833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12916334	chr15:51159835-51159836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs186125221	chr15:51159838-51159839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143780876	chr15:51159866-51159867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543521667	chr15:51159875-51159876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73403275	chr15:51159879-51159880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573726595	chr15:51159911-51159912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189797083	chr15:51160005-51160006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541105377	chr15:51160025-51160026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17599663	chr15:51160037-51160038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530352732	chr15:51160088-51160089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2619695	chr15:51160090-51160091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563886638	chr15:51160121-51160122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578048937	chr15:51160183-51160184	Weak transcription Enhancers	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
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51147800-51165800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:51151200-51177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:51156600-51158600	Enhancers	Fetal Intestine Large	intestine
4	chr15:51156800-51158600	Enhancers	Fetal Intestine Small	intestine
5	chr15:51157800-51165200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:51157800-51165800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:51158600-51159800	Weak transcription	Fetal Intestine Large	intestine
8	chr15:51158600-51159800	Weak transcription	Fetal Intestine Small	intestine
9	chr15:51159800-51160000	Enhancers	Fetal Intestine Small	intestine
10	chr15:51159800-51160200	Enhancers	Fetal Intestine Large	intestine
11	chr15:51160000-51160200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:51160400-51169000	Weak transcription	Left Ventricle	heart
13	chr15:51161400-51161600	Enhancers	HSMMtube	muscle
14	chr15:51161600-51161800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr15:51161600-51162000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr15:51161600-51162000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:51163600-51176400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:51163800-51164000	Enhancers	Fetal Kidney	kidney
19	chr15:51163800-51164800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:51164000-51165200	Weak transcription	Fetal Kidney	kidney
21	chr15:51165000-51165400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:51165000-51165800	Enhancers	Liver	Liver
23	chr15:51165000-51165800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:51165200-51165400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:51165200-51165600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:51165200-51165600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:51165200-51165800	Enhancers	Fetal Kidney	kidney
28	chr15:51165200-51166000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:51165200-51166000	Enhancers	Adipose Nuclei	Adipose
30	chr15:51165400-51165800	Enhancers	Fetal Intestine Large	intestine
31	chr15:51165400-51166000	Enhancers	Primary hematopoietic stem cells	blood
32	chr15:51165400-51166000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:51165400-51166000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr15:51165400-51166000	Enhancers	Fetal Intestine Small	intestine
35	chr15:51165400-51166000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr15:51165400-51166400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr15:51165400-51167000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr15:51165400-51169000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:51165600-51166000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr15:51165600-51166000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr15:51165600-51166200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:51165600-51166200	Bivalent Enhancer	HepG2	liver
43	chr15:51165600-51168800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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