Variant report

Variant	nsv933114
Chromosome Location	chr5:147492836-147493961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200311379	chr5:147492853-147492854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113028623	chr5:147492854-147492855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75864836	chr5:147492904-147492905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17107762	chr5:147492910-147492911	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147297915	chr5:147492929-147492930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72660260	chr5:147492994-147492995	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140859088	chr5:147493046-147493047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559183655	chr5:147493075-147493076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115555669	chr5:147493179-147493180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548874476	chr5:147493244-147493245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186142745	chr5:147493245-147493246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17107763	chr5:147493253-147493254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190645060	chr5:147493276-147493277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73271138	chr5:147493284-147493285	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112090883	chr5:147493294-147493295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374256375	chr5:147493298-147493299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72110610	chr5:147493319-147493320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75025009	chr5:147493321-147493322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575863303	chr5:147493337-147493338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544858464	chr5:147493372-147493373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377001755	chr5:147493382-147493383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3815739	chr5:147493384-147493385	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200866028	chr5:147493427-147493428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202207960	chr5:147493429-147493430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386693385	chr5:147493430-147493431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200166085	chr5:147493431-147493432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201517508	chr5:147493432-147493433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202153285	chr5:147493433-147493434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534718108	chr5:147493462-147493463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144692534	chr5:147493467-147493468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578204087	chr5:147493488-147493489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181496067	chr5:147493520-147493521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73271140	chr5:147493523-147493524	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6872265	chr5:147493543-147493544	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs3815738	chr5:147493600-147493601	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536438203	chr5:147493610-147493611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554850199	chr5:147493615-147493616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573434378	chr5:147493627-147493628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540691391	chr5:147493635-147493636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565333519	chr5:147493658-147493659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187128656	chr5:147493723-147493724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545117637	chr5:147493726-147493727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563372281	chr5:147493778-147493779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3815737	chr5:147493780-147493781	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs3815736	chr5:147493791-147493792	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528361480	chr5:147493793-147493794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35860121	chr5:147493803-147493804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71274364	chr5:147493811-147493812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201002048	chr5:147493826-147493827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546693929	chr5:147493828-147493829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 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	chr5:147470600-147508400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:147470600-147509000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:147471600-147514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:147472000-147505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:147472600-147497200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:147474200-147513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:147479000-147500600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:147479200-147494200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:147480800-147498200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:147481400-147513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:147481600-147505000	Weak transcription	Esophagus	oesophagus
13	chr5:147482200-147509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:147486800-147515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:147487400-147505000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:147487800-147525800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:147489800-147493800	Weak transcription	Hela-S3	cervix
18	chr5:147490000-147493600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:147491800-147493600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:147491800-147494000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:147491800-147495000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:147492400-147494200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr5:147493600-147495400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:147493600-147496800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:147493800-147497200	Strong transcription	Hela-S3	cervix

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