Variant report

Variant	nsv933612
Chromosome Location	chr5:147506754-147511148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116803896	chr5:147506780-147506781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560843215	chr5:147506781-147506782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546135892	chr5:147506803-147506804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2303073	chr5:147506867-147506868	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2303072	chr5:147506891-147506892	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182620779	chr5:147506976-147506977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532501947	chr5:147507002-147507003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551030051	chr5:147507005-147507006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10515603	chr5:147507030-147507031	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530304961	chr5:147507063-147507064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552484733	chr5:147507082-147507083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548610632	chr5:147507097-147507098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34673384	chr5:147507110-147507111	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3777129	chr5:147507111-147507112	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546585158	chr5:147507213-147507214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187868864	chr5:147507221-147507222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573267289	chr5:147507260-147507261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80305609	chr5:147507261-147507262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538384449	chr5:147507276-147507277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138822783	chr5:147507281-147507282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568999537	chr5:147507282-147507283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141916920	chr5:147507325-147507326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75649366	chr5:147507354-147507355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572763227	chr5:147507364-147507365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192698023	chr5:147507414-147507415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10041981	chr5:147507420-147507421	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577164767	chr5:147507434-147507435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544418517	chr5:147507438-147507439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146300540	chr5:147507446-147507447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530234133	chr5:147507485-147507486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545454304	chr5:147507486-147507487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3756690	chr5:147507511-147507512	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73794692	chr5:147507550-147507551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369410589	chr5:147507566-147507567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3756689	chr5:147507611-147507612	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs373088190	chr5:147507629-147507630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571311945	chr5:147507782-147507783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532126323	chr5:147507784-147507785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58436321	chr5:147507786-147507787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77570881	chr5:147507795-147507796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398050834	chr5:147507796-147507797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62387547	chr5:147507799-147507800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569019283	chr5:147507829-147507830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141332895	chr5:147507839-147507840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73794693	chr5:147507891-147507892	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536069831	chr5:147507954-147507955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72660262	chr5:147507996-147507997	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72660263	chr5:147508039-147508040	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs80175709	chr5:147508044-147508045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184457936	chr5:147508048-147508049	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:31 , 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	chr5:147474200-147513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:147481400-147513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:147482200-147509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:147486800-147515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:147487800-147525800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:147498800-147513000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:147500200-147513200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:147500400-147516000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:147502400-147526000	Weak transcription	Hela-S3	cervix
14	chr5:147503200-147512000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:147505400-147507000	Weak transcription	Esophagus	oesophagus
16	chr5:147505400-147514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:147505600-147507800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:147506600-147508600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:147506600-147509200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:147507000-147507400	Strong transcription	Esophagus	oesophagus
21	chr5:147507400-147521000	Weak transcription	Esophagus	oesophagus
22	chr5:147507800-147512000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:147508600-147515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:147509200-147518400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:147510200-147511000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:147510400-147510600	Active TSS	Stomach Mucosa	stomach
27	chr5:147510400-147512000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr5:147510600-147510800	Flanking Active TSS	Stomach Mucosa	stomach
29	chr5:147510800-147511000	Enhancers	Stomach Mucosa	stomach
30	chr5:147511000-147513000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:147511000-147514600	Weak transcription	Stomach Mucosa	stomach

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