Variant report

Variant	nsv457146
Chromosome Location	chr15:54003091-54022123
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	chr15:53072398..53073448-chr15:54008592..54010016,9	MCF-7	breast:
2	chr15:54005385..54005905-chr17:46955446..46956217,3	MCF-7	breast:
3	chr15:52586498..52588343-chr15:54006889..54008780,2	MCF-7	breast:
4	chr15:53057943..53058467-chr15:54010298..54010948,2	MCF-7	breast:
5	chr15:53945998..53946891-chr15:54009249..54010202,2	MCF-7	breast:
6	chr15:53676303..53677625-chr15:54008801..54010344,5	MCF-7	breast:
7	chr15:53072253..53073288-chr15:54008890..54009735,3	MCF-7	breast:
8	chr15:53252582..53253162-chr15:54009367..54009914,2	MCF-7	breast:
9	chr15:53489257..53489939-chr15:54008536..54009320,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169856	chromatin interactions
ENSG00000128833	chromatin interactions

Extended variants
information (count: 597 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551225	chr15:54003091-54003092	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12905777	chr15:54003104-54003105	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544358749	chr15:54003114-54003115	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12905661	chr15:54003131-54003132	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564342414	chr15:54003132-54003133	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374482757	chr15:54003136-54003137	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs61747199	chr15:54003155-54003156	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563562643	chr15:54003203-54003204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533620117	chr15:54003245-54003246	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113030243	chr15:54003252-54003253	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551975153	chr15:54003370-54003371	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559434637	chr15:54003414-54003415	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139953327	chr15:54003425-54003426	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548230074	chr15:54003436-54003437	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141269663	chr15:54003445-54003446	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530838136	chr15:54003462-54003463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550750372	chr15:54003468-54003469	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs570660117	chr15:54003479-54003480	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs199853038	chr15:54003490-54003491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376426185	chr15:54003511-54003512	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370920198	chr15:54003515-54003516	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200513225	chr15:54003523-54003524	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139139066	chr15:54003524-54003525	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374576737	chr15:54003529-54003530	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs367585830	chr15:54003530-54003531	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566975485	chr15:54003572-54003573	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111845511	chr15:54003591-54003592	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145288193	chr15:54003607-54003608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs201847149	chr15:54003629-54003630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370145481	chr15:54003653-54003654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs374531334	chr15:54003678-54003679	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368043146	chr15:54003726-54003727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374306373	chr15:54003730-54003731	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557263203	chr15:54003751-54003752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149917286	chr15:54003762-54003763	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113848729	chr15:54003804-54003805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555348094	chr15:54003807-54003808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575486386	chr15:54003816-54003817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147576432	chr15:54003827-54003828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558068931	chr15:54003866-54003867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115079432	chr15:54003870-54003871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540851506	chr15:54003872-54003873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559157419	chr15:54003898-54003899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528206640	chr15:54003959-54003960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541806883	chr15:54003961-54003962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561672860	chr15:54003977-54003978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530570649	chr15:54004004-54004005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111686759	chr15:54004027-54004028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534531009	chr15:54004036-54004037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112381650	chr15:54004083-54004084	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54001200-54007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:54002400-54004000	Enhancers	Fetal Kidney	kidney
3	chr15:54002800-54003600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:54003000-54003400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr15:54003000-54003600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:54003000-54003600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:54003000-54003600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr15:54003000-54003600	Enhancers	A549	lung
9	chr15:54003000-54003600	Enhancers	HepG2	liver
10	chr15:54003000-54003800	Flanking Active TSS	Liver	Liver
11	chr15:54003200-54003600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:54003400-54003800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr15:54003600-54008800	Weak transcription	A549	lung
14	chr15:54003600-54008800	Weak transcription	HepG2	liver
15	chr15:54003800-54004000	Enhancers	Liver	Liver
16	chr15:54003800-54007000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:54004000-54005200	Weak transcription	Liver	Liver
18	chr15:54005200-54006600	Enhancers	Liver	Liver
19	chr15:54006600-54007000	Flanking Active TSS	Liver	Liver
20	chr15:54006800-54007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:54007000-54007600	Enhancers	Liver	Liver
22	chr15:54007000-54009200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:54007600-54008800	Weak transcription	Liver	Liver
24	chr15:54007800-54008000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:54008800-54009000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr15:54008800-54009200	Enhancers	HepG2	liver
27	chr15:54008800-54009800	Enhancers	A549	lung
28	chr15:54008800-54010000	Enhancers	Liver	Liver
29	chr15:54009000-54009200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:54009200-54014600	Weak transcription	HepG2	liver
31	chr15:54010000-54011400	Weak transcription	Liver	Liver
32	chr15:54011400-54012000	Enhancers	Liver	Liver
33	chr15:54012000-54012600	Weak transcription	Liver	Liver
34	chr15:54012600-54013000	Enhancers	Liver	Liver
35	chr15:54013000-54013600	Flanking Active TSS	Liver	Liver
36	chr15:54013000-54013600	Enhancers	Fetal Intestine Small	intestine
37	chr15:54013600-54014400	Active TSS	Liver	Liver
38	chr15:54014400-54014600	Flanking Active TSS	Liver	Liver
39	chr15:54014600-54015200	Enhancers	Liver	Liver
40	chr15:54014600-54015200	Enhancers	HepG2	liver
41	chr15:54015200-54015400	Weak transcription	HepG2	liver

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