Variant report

Variant	nsv827334
Chromosome Location	chr15:50689558-50690443
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50646659..50649812-chr15:50686170..50691655,5	MCF-7	breast:
2	chr15:50681045..50683024-chr15:50688227..50690082,2	MCF-7	breast:
3	chr15:50649884..50652739-chr15:50690181..50692263,2	MCF-7	breast:
4	chr15:50690038..50692551-chr15:50716470..50719007,2	MCF-7	breast:
5	chr15:50689878..50691689-chr15:50693318..50695426,2	MCF-7	breast:
6	chr15:50645740..50648224-chr15:50688053..50691556,3	MCF-7	breast:
7	chr15:50689537..50691776-chr15:50694471..50696812,2	K562	blood:
8	chr15:50645962..50648936-chr15:50688537..50690460,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264109	chromatin interactions
ENSG00000259715	chromatin interactions
ENSG00000138592	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000104064	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572990034	chr15:50689561-50689562	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149066875	chr15:50689629-50689630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540415972	chr15:50689674-50689675	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373455857	chr15:50689714-50689715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376181851	chr15:50689753-50689754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561882343	chr15:50689754-50689755	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145333662	chr15:50689781-50689782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113846456	chr15:50689844-50689845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181048279	chr15:50689845-50689846	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184158650	chr15:50689862-50689863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370824472	chr15:50689875-50689876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565097191	chr15:50689899-50689900	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs74012397	chr15:50690003-50690004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530524404	chr15:50690011-50690012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534952917	chr15:50690039-50690040	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs547172845	chr15:50690045-50690046	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs934638	chr15:50690071-50690072	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557831172	chr15:50690107-50690108	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs536170118	chr15:50690125-50690126	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs573046194	chr15:50690142-50690143	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs557656877	chr15:50690154-50690155	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs568897536	chr15:50690207-50690208	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs147670797	chr15:50690230-50690231	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs557610934	chr15:50690264-50690265	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs572894138	chr15:50690283-50690284	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs142227261	chr15:50690287-50690288	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs189665246	chr15:50690307-50690308	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs11857228	chr15:50690387-50690388	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544123243	chr15:50690404-50690405	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs146153894	chr15:50690427-50690428	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs530853469	chr15:50690431-50690432	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs546175603	chr15:50690432-50690433	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50677000-50690400	Weak transcription	Right Atrium	heart
2	chr15:50683800-50703800	Weak transcription	K562	blood
3	chr15:50684800-50690000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:50686800-50699400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:50690000-50690400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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