Variant report

Variant	nsv882731
Chromosome Location	chr5:114702503-114721081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114717884..114719836-chr5:114879578..114881305,2	MCF-7	breast:
2	chr5:114713336..114714974-chr5:114920219..114921988,2	MCF-7	breast:
3	chr5:114684315..114686804-chr5:114699761..114703151,3	MCF-7	breast:
4	chr5:114630803..114632408-chr5:114701382..114703629,2	MCF-7	breast:
5	chr5:114711869..114714907-chr5:114878578..114880723,3	MCF-7	breast:
6	chr5:114713804..114715548-chr5:114724717..114726881,2	MCF-7	breast:
7	chr5:114701068..114703742-chr5:114706747..114709542,2	MCF-7	breast:
8	chr5:114709493..114710351-chr5:114909755..114910754,3	MCF-7	breast:
9	chr5:114700131..114702425-chr5:114706517..114709440,2	MCF-7	breast:
10	chr5:114712072..114714398-chr5:114878860..114881275,2	MCF-7	breast:
11	chr5:114645624..114646196-chr5:114709538..114710375,2	MCF-7	breast:
12	chr5:114712822..114713353-chr5:114921928..114922705,2	MCF-7	breast:
13	chr5:114701068..114703742-chr5:114706747..114709542,2	MCF-7	breast:
14	chr5:114702805..114704848-chr5:114889870..114892622,2	K562	blood:
15	chr5:114708411..114710984-chr5:114878847..114880354,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164221	chromatin interactions
ENSG00000145780	chromatin interactions

Extended variants
information (count: 845 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11241322	chr5:114702503-114702504	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181225372	chr5:114702504-114702505	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377369045	chr5:114702555-114702556	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548813131	chr5:114702561-114702562	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141680561	chr5:114702573-114702574	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531544304	chr5:114702594-114702595	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551634171	chr5:114702629-114702630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571577292	chr5:114702680-114702681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547956470	chr5:114702696-114702697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186503434	chr5:114702713-114702714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150536944	chr5:114702719-114702720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190587381	chr5:114702803-114702804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536739107	chr5:114702804-114702805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568183871	chr5:114702806-114702807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556518915	chr5:114702884-114702885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374574687	chr5:114702904-114702905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181760861	chr5:114702914-114702915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115203533	chr5:114702941-114702942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539059077	chr5:114702995-114702996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186114371	chr5:114702996-114702997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577227777	chr5:114703026-114703027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10478227	chr5:114703052-114703053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143183100	chr5:114703120-114703121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200434043	chr5:114703181-114703182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11241323	chr5:114703188-114703189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35417101	chr5:114703189-114703190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542693274	chr5:114703206-114703207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554705651	chr5:114703240-114703241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190878168	chr5:114703244-114703245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146747586	chr5:114703252-114703253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551404889	chr5:114703282-114703283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2925171	chr5:114703359-114703360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs149966865	chr5:114703360-114703361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183950782	chr5:114703397-114703398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576623181	chr5:114703403-114703404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187761299	chr5:114703418-114703419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144997265	chr5:114703443-114703444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556597218	chr5:114703482-114703483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149098630	chr5:114703489-114703490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190893263	chr5:114703502-114703503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558991316	chr5:114703534-114703535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114906345	chr5:114703546-114703547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143686704	chr5:114703551-114703552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183237554	chr5:114703568-114703569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543645030	chr5:114703612-114703613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377396072	chr5:114703618-114703619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558651881	chr5:114703623-114703624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187182574	chr5:114703633-114703634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558882417	chr5:114703636-114703637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370446811	chr5:114703653-114703654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	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
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114696800-114704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:114699600-114702600	Enhancers	Fetal Muscle Leg	muscle
3	chr5:114699800-114706600	Weak transcription	Gastric	stomach
4	chr5:114700000-114703000	Enhancers	HUVEC	blood vessel
5	chr5:114700000-114704200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
7	chr5:114701000-114703000	Enhancers	NHDF-Ad	bronchial
8	chr5:114701200-114703000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:114701400-114702600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:114701400-114702600	Enhancers	Hela-S3	cervix
11	chr5:114701400-114702600	Enhancers	HMEC	breast
12	chr5:114701400-114702600	Enhancers	NH-A	brain
13	chr5:114701400-114702600	Enhancers	NHEK	skin
14	chr5:114701400-114702800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:114701400-114702800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:114701400-114703000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:114701400-114703000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:114701400-114703000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:114701400-114703400	Enhancers	HSMM	muscle
20	chr5:114701600-114702600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:114701600-114702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:114701600-114702600	Enhancers	A549	lung
23	chr5:114701600-114702600	Enhancers	Osteobl	bone
24	chr5:114701800-114702600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:114702000-114702600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:114702000-114704200	Weak transcription	Placenta	Placenta
27	chr5:114702000-114704200	Weak transcription	Right Ventricle	heart
28	chr5:114702000-114707600	Weak transcription	Psoas Muscle	Psoas
29	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
30	chr5:114702200-114702600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:114702200-114704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:114702200-114704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:114702200-114711400	Weak transcription	Left Ventricle	heart
34	chr5:114702400-114702600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr5:114702400-114702600	Flanking Active TSS	HSMMtube	muscle
36	chr5:114702400-114704400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:114702400-114704600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:114702400-114707600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:114702400-114707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:114702600-114702800	Enhancers	HSMMtube	muscle
41	chr5:114702600-114704400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr5:114702600-114704600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:114702600-114704800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:114702600-114707600	Weak transcription	Hela-S3	cervix
45	chr5:114702600-114707600	Weak transcription	NHEK	skin
46	chr5:114702600-114707600	Weak transcription	Osteobl	bone
47	chr5:114702600-114707800	Weak transcription	HMEC	breast
48	chr5:114702600-114712000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:114702600-114712800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:114702600-114713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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