Variant report

Variant	nsv818388
Chromosome Location	chr5:147333945-147337164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6580511	chr5:147333945-147333946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549504575	chr5:147333956-147333957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567821249	chr5:147333959-147333960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144374129	chr5:147333993-147333994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547289563	chr5:147334002-147334003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1422587	chr5:147334005-147334006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371969470	chr5:147334010-147334011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539047435	chr5:147334029-147334030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56363654	chr5:147334065-147334066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569649076	chr5:147334068-147334069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147800371	chr5:147334121-147334122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192514537	chr5:147334141-147334142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141182974	chr5:147334159-147334160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185079003	chr5:147334162-147334163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552830242	chr5:147334171-147334172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149904275	chr5:147334195-147334196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144913979	chr5:147334223-147334224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563651394	chr5:147334254-147334255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575561535	chr5:147334300-147334301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543111388	chr5:147334360-147334361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10065895	chr5:147334423-147334424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189929891	chr5:147334456-147334457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547250705	chr5:147334510-147334511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565430774	chr5:147334511-147334512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182091910	chr5:147334528-147334529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149028699	chr5:147334548-147334549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569598412	chr5:147334578-147334579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536669116	chr5:147334586-147334587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546952991	chr5:147334612-147334613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548646701	chr5:147334630-147334631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143407619	chr5:147334646-147334647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534498246	chr5:147334687-147334688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371958461	chr5:147334703-147334704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386405252	chr5:147334710-147334711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144348601	chr5:147334712-147334713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375968000	chr5:147334753-147334754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552793643	chr5:147334774-147334775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12518806	chr5:147334789-147334790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538886887	chr5:147334805-147334806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146869546	chr5:147334823-147334824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548967992	chr5:147334848-147334849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34733654	chr5:147334908-147334909	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376989815	chr5:147334930-147334931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186812705	chr5:147334934-147334935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561352534	chr5:147334961-147334962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573415614	chr5:147335015-147335016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189688384	chr5:147335016-147335017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181209019	chr5:147335033-147335034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531920778	chr5:147335078-147335079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140671208	chr5:147335108-147335109	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147326600-147345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:147327000-147343200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:147327200-147343400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:147327400-147335400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:147327400-147335400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:147327600-147335200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:147328400-147334800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:147328400-147337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:147328400-147343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:147330200-147335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:147330200-147335600	Weak transcription	Hela-S3	cervix
12	chr5:147331800-147343000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:147334800-147335800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:147335200-147335800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:147335200-147336000	Enhancers	NHEK	skin
16	chr5:147335200-147336200	Enhancers	HMEC	breast
17	chr5:147335200-147338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:147335400-147335600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:147335400-147336200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:147335400-147336200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:147335400-147336600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:147335400-147336600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:147335400-147337600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:147335600-147336200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:147335600-147336400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:147335600-147336400	Enhancers	Hela-S3	cervix
27	chr5:147335800-147336400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:147335800-147336600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:147335800-147343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:147336000-147336400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:147336000-147336800	Flanking Active TSS	NHEK	skin
32	chr5:147336200-147336400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr5:147336200-147336400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:147336200-147336600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:147336200-147336600	Flanking Active TSS	HMEC	breast
36	chr5:147336200-147336800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:147336400-147340600	Weak transcription	Hela-S3	cervix
38	chr5:147336400-147343400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:147336400-147343400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:147336400-147352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:147336600-147337600	Enhancers	HMEC	breast
42	chr5:147336600-147337800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:147336600-147343600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:147336600-147352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:147336800-147337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:147336800-147337800	Enhancers	NHEK	skin

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