Variant report

Variant	nsv1036373
Chromosome Location	chr15:53993007-54020958
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:53945998..53946891-chr15:54009249..54010202,2	MCF-7	breast:
2	chr15:53057943..53058467-chr15:54010298..54010948,2	MCF-7	breast:
3	chr15:54005385..54005905-chr17:46955446..46956217,3	MCF-7	breast:
4	chr15:53072398..53073448-chr15:54008592..54010016,9	MCF-7	breast:
5	chr15:53489257..53489939-chr15:54008536..54009320,2	MCF-7	breast:
6	chr15:53252582..53253162-chr15:54009367..54009914,2	MCF-7	breast:
7	chr15:53072253..53073288-chr15:54008890..54009735,3	MCF-7	breast:
8	chr15:52586498..52588343-chr15:54006889..54008780,2	MCF-7	breast:
9	chr15:53676303..53677625-chr15:54008801..54010344,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169856	chromatin interactions
ENSG00000128833	chromatin interactions

Extended variants
information (count: 1081 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142245165	chr15:53993014-53993015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113599666	chr15:53993024-53993025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74018740	chr15:53993057-53993058	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs151210259	chr15:53993081-53993082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140307702	chr15:53993082-53993083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557393455	chr15:53993109-53993110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572595515	chr15:53993128-53993129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577751838	chr15:53993143-53993144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193141087	chr15:53993196-53993197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553771927	chr15:53993217-53993218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114326333	chr15:53993242-53993243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542961427	chr15:53993275-53993276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185266717	chr15:53993289-53993290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138330911	chr15:53993313-53993314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576549737	chr15:53993351-53993352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190096246	chr15:53993352-53993353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77288656	chr15:53993400-53993401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533079411	chr15:53993415-53993416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144080677	chr15:53993442-53993443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530362605	chr15:53993458-53993459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181232375	chr15:53993468-53993469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529137260	chr15:53993472-53993473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78859860	chr15:53993476-53993477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186399422	chr15:53993526-53993527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537630355	chr15:53993551-53993552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188162310	chr15:53993592-53993593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571380405	chr15:53993593-53993594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368177661	chr15:53993635-53993636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180882463	chr15:53993694-53993695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185484382	chr15:53993697-53993698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112839017	chr15:53993701-53993702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552793287	chr15:53993719-53993720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370281315	chr15:53993733-53993734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371191017	chr15:53993734-53993735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369568228	chr15:53993756-53993757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57324023	chr15:53993757-53993758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4300585	chr15:53993758-53993759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112744790	chr15:53993760-53993761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113381696	chr15:53993762-53993763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139102972	chr15:53993770-53993771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58047374	chr15:53993787-53993788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373174311	chr15:53993793-53993794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534192307	chr15:53993826-53993827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112189908	chr15:53993841-53993842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138410972	chr15:53993848-53993849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112197999	chr15:53993863-53993864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528573541	chr15:53993895-53993896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545241803	chr15:53993908-53993909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191030884	chr15:53993920-53993921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143394886	chr15:53993945-53993946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53986800-54000000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:53990200-53993400	Strong transcription	Liver	Liver
3	chr15:53991200-54003000	Weak transcription	A549	lung
4	chr15:53993400-53995400	Weak transcription	Liver	Liver
5	chr15:53995400-53996400	Strong transcription	Liver	Liver
6	chr15:53996400-53999200	Weak transcription	Liver	Liver
7	chr15:53999200-53999400	Enhancers	Liver	Liver
8	chr15:53999400-53999800	Weak transcription	Liver	Liver
9	chr15:53999800-54000200	Enhancers	Liver	Liver
10	chr15:54000000-54000600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:54000200-54001600	Flanking Active TSS	Liver	Liver
12	chr15:54000600-54001000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:54001000-54001200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:54001000-54003000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr15:54001200-54001400	Enhancers	Fetal Kidney	kidney
16	chr15:54001200-54007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:54001400-54002400	Weak transcription	Fetal Kidney	kidney
18	chr15:54001600-54003000	Active TSS	Liver	Liver
19	chr15:54002000-54002400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:54002400-54002800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:54002400-54004000	Enhancers	Fetal Kidney	kidney
22	chr15:54002800-54003600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:54003000-54003400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr15:54003000-54003600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:54003000-54003600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:54003000-54003600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr15:54003000-54003600	Enhancers	A549	lung
28	chr15:54003000-54003600	Enhancers	HepG2	liver
29	chr15:54003000-54003800	Flanking Active TSS	Liver	Liver
30	chr15:54003200-54003600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:54003400-54003800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr15:54003600-54008800	Weak transcription	A549	lung
33	chr15:54003600-54008800	Weak transcription	HepG2	liver
34	chr15:54003800-54004000	Enhancers	Liver	Liver
35	chr15:54003800-54007000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:54004000-54005200	Weak transcription	Liver	Liver
37	chr15:54005200-54006600	Enhancers	Liver	Liver
38	chr15:54006600-54007000	Flanking Active TSS	Liver	Liver
39	chr15:54006800-54007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:54007000-54007600	Enhancers	Liver	Liver
41	chr15:54007000-54009200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr15:54007600-54008800	Weak transcription	Liver	Liver
43	chr15:54007800-54008000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:54008800-54009000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr15:54008800-54009200	Enhancers	HepG2	liver
46	chr15:54008800-54009800	Enhancers	A549	lung
47	chr15:54008800-54010000	Enhancers	Liver	Liver
48	chr15:54009000-54009200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:54009200-54014600	Weak transcription	HepG2	liver
50	chr15:54010000-54011400	Weak transcription	Liver	Liver

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