Variant report

Variant	nsv933120
Chromosome Location	chr5:147516573-147516957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147514157..147516994-chr5:147523007..147525747,2	MCF-7	breast:
2	chr5:147511830..147514610-chr5:147516441..147519250,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201869254	chr5:147516575-147516576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4349706	chr5:147516598-147516599	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11750345	chr5:147516600-147516601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73794699	chr5:147516613-147516614	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551723978	chr5:147516724-147516725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36032656	chr5:147516743-147516744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3088193	chr5:147516762-147516763	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537396944	chr5:147516788-147516789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537104980	chr5:147516811-147516812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187725907	chr5:147516855-147516856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552162723	chr5:147516871-147516872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72660265	chr5:147516884-147516885	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535049624	chr5:147516910-147516911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527953668	chr5:147516912-147516913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368567196	chr5:147516914-147516915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370361242	chr5:147516915-147516916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72543452	chr5:147516916-147516917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572074949	chr5:147516917-147516918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192097665	chr5:147516929-147516930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147470400-147518400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:147487800-147525800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:147502400-147526000	Weak transcription	Hela-S3	cervix
4	chr5:147507400-147521000	Weak transcription	Esophagus	oesophagus
5	chr5:147509200-147518400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:147513600-147517200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:147513600-147522200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:147513600-147526200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:147515200-147525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:147515400-147520800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:147515400-147524400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:147515600-147520800	Weak transcription	Stomach Mucosa	stomach
13	chr5:147515800-147525200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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