Variant report

Variant	nsv599432
Chromosome Location	chr5:113486177-113561766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:55038028..55038968-chr5:113535454..113536320,2	MCF-7	breast:
2	chr5:113501339..113504130-chr5:113504587..113506234,2	MCF-7	breast:
3	chr5:113501339..113504130-chr5:113504587..113506234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121058	chromatin interactions

Extended variants
information (count: 2238 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2238 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36087437	chr5:113487600-113487601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78697404	chr5:113487601-113487602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186740341	chr5:113487609-113487610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62382867	chr5:113487611-113487612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559832472	chr5:113487630-113487631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192041117	chr5:113487663-113487664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183093802	chr5:113487667-113487668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539246727	chr5:113487670-113487671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138673348	chr5:113487680-113487681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187765052	chr5:113487682-113487683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553858018	chr5:113487719-113487720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73779718	chr5:113487759-113487760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191159060	chr5:113487760-113487761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182245076	chr5:113487804-113487805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76577361	chr5:113487820-113487821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535722792	chr5:113487823-113487824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528710855	chr5:113487837-113487838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374080336	chr5:113487854-113487855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376892069	chr5:113487855-113487856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575615997	chr5:113487856-113487857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75714401	chr5:113487864-113487865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186769412	chr5:113487879-113487880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535769692	chr5:113487939-113487940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10045558	chr5:113487964-113487965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72797657	chr5:113487975-113487976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116294271	chr5:113487981-113487982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557608945	chr5:113487995-113487996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554412962	chr5:113488030-113488031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115572543	chr5:113488031-113488032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553556003	chr5:113488032-113488033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374436337	chr5:113488035-113488036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574660344	chr5:113488055-113488056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192627945	chr5:113488090-113488091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368665141	chr5:113488094-113488095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75365683	chr5:113488106-113488107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185079741	chr5:113488131-113488132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557182982	chr5:113488204-113488205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575279304	chr5:113488210-113488211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188348460	chr5:113488214-113488215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80053748	chr5:113488276-113488277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528562247	chr5:113488281-113488282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540339733	chr5:113488307-113488308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561879716	chr5:113488327-113488328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149324795	chr5:113488361-113488362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193167001	chr5:113488371-113488372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575937268	chr5:113488397-113488398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143581332	chr5:113488429-113488430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532825543	chr5:113488461-113488462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138821054	chr5:113488462-113488463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566318681	chr5:113488482-113488483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113487600-113493000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:113488200-113488800	Enhancers	Fetal Heart	heart
3	chr5:113488400-113489800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr5:113488800-113489200	Weak transcription	Fetal Heart	heart
5	chr5:113489200-113490200	Enhancers	Fetal Heart	heart
6	chr5:113493000-113493200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr5:113493000-113493200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:113493000-113493200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr5:113493000-113493200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:113493000-113493200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr5:113493000-113493200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr5:113493000-113493200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr5:113493000-113493200	Enhancers	Primary hematopoietic stem cells	blood
14	chr5:113493000-113493200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:113493000-113493200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
16	chr5:113493000-113493200	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr5:113493000-113493200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr5:113493000-113493200	Active TSS	GM12878-XiMat	blood
19	chr5:113493000-113493200	Flanking Bivalent TSS/Enh	HMEC	breast
20	chr5:113493000-113493200	Enhancers	HSMMtube	muscle
21	chr5:113493000-113493200	Active TSS	K562	blood
22	chr5:113493000-113493200	Enhancers	NH-A	brain
23	chr5:113493000-113493200	Enhancers	Osteobl	bone
24	chr5:113499200-113500000	Enhancers	Fetal Heart	heart
25	chr5:113500000-113502400	Weak transcription	Fetal Heart	heart
26	chr5:113502400-113502800	Enhancers	Fetal Heart	heart
27	chr5:113502800-113505200	Weak transcription	Fetal Heart	heart
28	chr5:113504400-113505200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:113505200-113505600	Enhancers	Fetal Heart	heart
30	chr5:113505600-113511800	Weak transcription	Fetal Heart	heart
31	chr5:113508800-113509200	ZNF genes & repeats	HUVEC	blood vessel
32	chr5:113509200-113510200	Weak transcription	HUVEC	blood vessel
33	chr5:113510000-113510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:113510000-113512600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:113510000-113512800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:113510000-113514800	Weak transcription	Left Ventricle	heart
37	chr5:113510200-113512200	Enhancers	NH-A	brain
38	chr5:113510200-113512600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:113510200-113512600	Enhancers	NHEK	skin
40	chr5:113510200-113512800	Enhancers	HUVEC	blood vessel
41	chr5:113510400-113511000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:113510600-113512200	Enhancers	HMEC	breast
43	chr5:113510800-113514000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:113511000-113511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:113511400-113512000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:113511400-113512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:113511600-113512000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:113511800-113512200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr5:113511800-113512200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:113511800-113512400	Enhancers	Fetal Heart	heart

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