Variant report

Variant	nsv527509
Chromosome Location	chr5:119697716-119724069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119719801..119721845-chr5:119723016..119725406,2	K562	blood:
2	chr5:119721254..119725042-chr5:119751252..119754462,3	K562	blood:
3	chr5:119719801..119721845-chr5:119723016..119725406,2	K562	blood:
4	chr5:119702205..119704194-chr5:119706645..119708687,2	K562	blood:
5	chr5:119702205..119704194-chr5:119706645..119708687,2	K562	blood:

Extended variants
information (count: 1051 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1051 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6896794	chr5:119697716-119697717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147578666	chr5:119697766-119697767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564784089	chr5:119697772-119697773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184061337	chr5:119697791-119697792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113431536	chr5:119697798-119697799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375567306	chr5:119697813-119697814	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542545341	chr5:119697845-119697846	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555751628	chr5:119697873-119697874	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575818590	chr5:119697935-119697936	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564796781	chr5:119697937-119697938	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376860608	chr5:119697965-119697966	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs564582573	chr5:119698005-119698006	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs17422211	chr5:119698012-119698013	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs540706384	chr5:119698024-119698025	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560566505	chr5:119698027-119698028	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529234731	chr5:119698034-119698035	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76289103	chr5:119698098-119698099	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373810826	chr5:119698122-119698123	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74817789	chr5:119698144-119698145	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs142070012	chr5:119698192-119698193	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551201551	chr5:119698198-119698199	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571107150	chr5:119698210-119698211	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533669116	chr5:119698287-119698288	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547075423	chr5:119698295-119698296	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs142910433	chr5:119698305-119698306	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76365667	chr5:119698306-119698307	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556029877	chr5:119698347-119698348	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575809951	chr5:119698349-119698350	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538531337	chr5:119698384-119698385	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558439323	chr5:119698402-119698403	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs188600552	chr5:119698415-119698416	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs151094775	chr5:119698462-119698463	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546968200	chr5:119698465-119698466	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141089946	chr5:119698483-119698484	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs192459998	chr5:119698494-119698495	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542613986	chr5:119698528-119698529	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs374087466	chr5:119698535-119698536	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs543319690	chr5:119698567-119698568	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs150278481	chr5:119698575-119698576	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184435438	chr5:119698585-119698586	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190577535	chr5:119698593-119698594	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564772180	chr5:119698638-119698639	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563107446	chr5:119698649-119698650	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182212488	chr5:119698650-119698651	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547493278	chr5:119698672-119698673	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185899185	chr5:119698673-119698674	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532073988	chr5:119698688-119698689	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536255294	chr5:119698724-119698725	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs549553621	chr5:119698725-119698726	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188800483	chr5:119698747-119698748	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119690200-119701400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119697400-119701600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:119697800-119699000	Active TSS	K562	blood
4	chr5:119698200-119698400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:119698200-119699200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:119698400-119703600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:119699200-119701600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119700800-119702200	Enhancers	HMEC	breast
9	chr5:119701400-119702000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:119701400-119702000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:119701600-119702000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:119701600-119702200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:119701600-119702400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:119701600-119703000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:119702000-119703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:119702000-119703800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:119702200-119703800	Weak transcription	HMEC	breast
18	chr5:119702200-119704000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:119702400-119707800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:119703600-119703800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:119703800-119704000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:119703800-119704200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:119703800-119704200	Enhancers	Esophagus	oesophagus
24	chr5:119703800-119704600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:119703800-119705400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:119703800-119705400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:119703800-119705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:119703800-119705600	Enhancers	HMEC	breast
29	chr5:119704000-119704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:119704000-119704400	Active TSS	Gastric	stomach
31	chr5:119704000-119705000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:119704000-119705200	ZNF genes & repeats	Dnd41	blood
33	chr5:119704200-119704400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:119704400-119705000	Enhancers	Colonic Mucosa	Colon
35	chr5:119704400-119705400	Enhancers	Gastric	stomach
36	chr5:119704400-119708600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:119704600-119705000	Enhancers	Duodenum Mucosa	Duodenum
38	chr5:119704600-119705000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr5:119704600-119705200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:119704600-119705200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr5:119704600-119705200	Enhancers	Stomach Mucosa	stomach
42	chr5:119704600-119705400	Enhancers	Pancreas	Pancrea
43	chr5:119704800-119705200	Enhancers	Liver	Liver
44	chr5:119704800-119705200	Enhancers	NHEK	skin
45	chr5:119705000-119705400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:119705400-119708600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:119705400-119708600	Weak transcription	Gastric	stomach
48	chr5:119705600-119714600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:119707800-119709000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:119707800-119709200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links