Variant report

Variant	nsv1048785
Chromosome Location	chr15:53997956-54020958
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	chr15:54005385..54005905-chr17:46955446..46956217,3	MCF-7	breast:
2	chr15:53945998..53946891-chr15:54009249..54010202,2	MCF-7	breast:
3	chr15:53252582..53253162-chr15:54009367..54009914,2	MCF-7	breast:
4	chr15:53057943..53058467-chr15:54010298..54010948,2	MCF-7	breast:
5	chr15:53489257..53489939-chr15:54008536..54009320,2	MCF-7	breast:
6	chr15:53072398..53073448-chr15:54008592..54010016,9	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: 820 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577877265	chr15:53997967-53997968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147111925	chr15:53997989-53997990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57319234	chr15:53998011-53998012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574142856	chr15:53998044-53998045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543240019	chr15:53998066-53998067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535109638	chr15:53998068-53998069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561608214	chr15:53998077-53998078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551234174	chr15:53998091-53998092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530645437	chr15:53998093-53998094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544186352	chr15:53998134-53998135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201744081	chr15:53998141-53998142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371999648	chr15:53998145-53998146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34600826	chr15:53998161-53998162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138509133	chr15:53998178-53998179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139495300	chr15:53998189-53998190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200746058	chr15:53998229-53998230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371000361	chr15:53998233-53998234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143944761	chr15:53998240-53998241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529053264	chr15:53998259-53998260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549180453	chr15:53998261-53998262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375220009	chr15:53998298-53998299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372127594	chr15:53998302-53998303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs690235	chr15:53998314-53998315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375452465	chr15:53998318-53998319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368812535	chr15:53998322-53998323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557685799	chr15:53998337-53998338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61513701	chr15:53998399-53998400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534240083	chr15:53998486-53998487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373506450	chr15:53998529-53998530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554154771	chr15:53998530-53998531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182626260	chr15:53998531-53998532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201207547	chr15:53998544-53998545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201360271	chr15:53998545-53998546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs502494	chr15:53998547-53998548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113058021	chr15:53998548-53998549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4123829	chr15:53998549-53998550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111755582	chr15:53998551-53998552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59759547	chr15:53998567-53998568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59968814	chr15:53998585-53998586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56246540	chr15:53998592-53998593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146065426	chr15:53998596-53998597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57254769	chr15:53998632-53998633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186605125	chr15:53998661-53998662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192375402	chr15:53998693-53998694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183934315	chr15:53998722-53998723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544321222	chr15:53998736-53998737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374401134	chr15:53998747-53998748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59364158	chr15:53998789-53998790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532939627	chr15:53998818-53998819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540248463	chr15:53998819-53998820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	18451855	CNVD

Chromatin state (count:57 , 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	chr15:53991200-54003000	Weak transcription	A549	lung
3	chr15:53996400-53999200	Weak transcription	Liver	Liver
4	chr15:53999200-53999400	Enhancers	Liver	Liver
5	chr15:53999400-53999800	Weak transcription	Liver	Liver
6	chr15:53999800-54000200	Enhancers	Liver	Liver
7	chr15:54000000-54000600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:54000200-54001600	Flanking Active TSS	Liver	Liver
9	chr15:54000600-54001000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:54001000-54001200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:54001000-54003000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr15:54001200-54001400	Enhancers	Fetal Kidney	kidney
13	chr15:54001200-54007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:54001400-54002400	Weak transcription	Fetal Kidney	kidney
15	chr15:54001600-54003000	Active TSS	Liver	Liver
16	chr15:54002000-54002400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:54002400-54002800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:54002400-54004000	Enhancers	Fetal Kidney	kidney
19	chr15:54002800-54003600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:54003000-54003400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr15:54003000-54003600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:54003000-54003600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:54003000-54003600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr15:54003000-54003600	Enhancers	A549	lung
25	chr15:54003000-54003600	Enhancers	HepG2	liver
26	chr15:54003000-54003800	Flanking Active TSS	Liver	Liver
27	chr15:54003200-54003600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:54003400-54003800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr15:54003600-54008800	Weak transcription	A549	lung
30	chr15:54003600-54008800	Weak transcription	HepG2	liver
31	chr15:54003800-54004000	Enhancers	Liver	Liver
32	chr15:54003800-54007000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:54004000-54005200	Weak transcription	Liver	Liver
34	chr15:54005200-54006600	Enhancers	Liver	Liver
35	chr15:54006600-54007000	Flanking Active TSS	Liver	Liver
36	chr15:54006800-54007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:54007000-54007600	Enhancers	Liver	Liver
38	chr15:54007000-54009200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr15:54007600-54008800	Weak transcription	Liver	Liver
40	chr15:54007800-54008000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:54008800-54009000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr15:54008800-54009200	Enhancers	HepG2	liver
43	chr15:54008800-54009800	Enhancers	A549	lung
44	chr15:54008800-54010000	Enhancers	Liver	Liver
45	chr15:54009000-54009200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:54009200-54014600	Weak transcription	HepG2	liver
47	chr15:54010000-54011400	Weak transcription	Liver	Liver
48	chr15:54011400-54012000	Enhancers	Liver	Liver
49	chr15:54012000-54012600	Weak transcription	Liver	Liver
50	chr15:54012600-54013000	Enhancers	Liver	Liver

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