Variant report

Variant	nsv882536
Chromosome Location	chr5:103705870-103828340
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:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103747998..103750504-chr5:103755568..103757533,2	MCF-7	breast:
2	chr5:103144212..103144806-chr5:103748305..103749025,2	MCF-7	breast:
3	chr5:103747998..103750504-chr5:103755568..103757533,2	MCF-7	breast:
4	chr5:103794931..103796667-chr5:103798124..103800738,2	K562	blood:
5	chr5:103755525..103757594-chr5:103760680..103762734,2	K562	blood:
6	chr5:103764530..103765315-chr5:105577184..105577701,2	MCF-7	breast:
7	chr5:103720063..103721767-chr5:103728887..103730529,2	MCF-7	breast:
8	chr5:103808557..103811668-chr5:103812642..103816209,3	MCF-7	breast:
9	chr5:103808557..103811668-chr5:103812642..103816209,3	MCF-7	breast:
10	chr5:102891327..102893155-chr5:103823232..103825009,2	K562	blood:
11	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:
12	chr5:103755525..103757594-chr5:103760680..103762734,2	K562	blood:
13	chr5:103720063..103721767-chr5:103728887..103730529,2	MCF-7	breast:
14	chr5:103812785..103815361-chr5:104049597..104051659,2	K562	blood:
15	chr5:75897144..75897771-chr5:103707251..103707772,2	MCF-7	breast:
16	chr5:103794931..103796667-chr5:103798124..103800738,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-4	chr5:103716610-103716740	XLOC_004946
2	lnc-NUDT12-6	chr5:103718999-103719083	ENSG00000251574
3	lnc-NUDT12-6	chr5:103819905-103820353	ENSG00000251574
4	lnc-NUDT12-4	chr5:103716257-103716480	XLOC_004946

No data

Variant related genes	Relation type
ENSG00000112874	chromatin interactions

Extended variants
information (count: 1269 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2963227	chr5:103705870-103705871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35742735	chr5:103705889-103705890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191258457	chr5:103705954-103705955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183222818	chr5:103705977-103705978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577084300	chr5:103705978-103705979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186910731	chr5:103705981-103705982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35247223	chr5:103706049-103706050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576184209	chr5:103706059-103706060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191422405	chr5:103706081-103706082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183629533	chr5:103706098-103706099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546535126	chr5:103706148-103706149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568379500	chr5:103706176-103706177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535721283	chr5:103706208-103706209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187900293	chr5:103706214-103706215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193223377	chr5:103706316-103706317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564458924	chr5:103706363-103706364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550874405	chr5:103706424-103706425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569108929	chr5:103706444-103706445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539612831	chr5:103706447-103706448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558014074	chr5:103706451-103706452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185221698	chr5:103706538-103706539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190178045	chr5:103706539-103706540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529425020	chr5:103706550-103706551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547913946	chr5:103706551-103706552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567827824	chr5:103706563-103706564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573240200	chr5:103706582-103706583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35005349	chr5:103706601-103706602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72776925	chr5:103706662-103706663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533947486	chr5:103706665-103706666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547078247	chr5:103706701-103706702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570420231	chr5:103706704-103706705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544153996	chr5:103706713-103706714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370360524	chr5:103706748-103706749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539398970	chr5:103706757-103706758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556404674	chr5:103706759-103706760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181368035	chr5:103706764-103706765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111814360	chr5:103706767-103706768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535663631	chr5:103707002-103707003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555573387	chr5:103707052-103707053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574015961	chr5:103707107-103707108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374689490	chr5:103707126-103707127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149234308	chr5:103707136-103707137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548532536	chr5:103707138-103707139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368706365	chr5:103707139-103707140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79492984	chr5:103707148-103707149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552670877	chr5:103707154-103707155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200732381	chr5:103707174-103707175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577967392	chr5:103707182-103707183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540627789	chr5:103707270-103707271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543788177	chr5:103707282-103707283	ZNF genes & repeats Weak transcription	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Obesity	20622171	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103705800-103706200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:103705800-103706400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:103706200-103708000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:103706400-103706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:103706600-103706800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:103706600-103708200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:103707000-103708000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:103707200-103707400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
9	chr5:103707400-103707800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:103707800-103708600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr5:103708000-103708600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:103708000-103708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:103708000-103708800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:103708200-103708400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:103708200-103708600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:103708200-103708600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:103708200-103708600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:103708200-103708600	Enhancers	HUVEC	blood vessel
19	chr5:103708400-103708800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:103708800-103710200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:103708800-103711000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:103711000-103711400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:103712800-103715800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:103715800-103716400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:103736400-103737600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:103736600-103737400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:103742200-103742600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
28	chr5:103742400-103742600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:103742600-103745600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:103743600-103744200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:103743800-103744200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:103743800-103744200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:103743800-103744200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:103743800-103744800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:103744200-103744400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:103744200-103745400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:103744400-103748400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:103745400-103745600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:103745400-103745800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr5:103745600-103745800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:103745600-103748000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:103748400-103748800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:103748400-103748800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:103748400-103748800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:103748400-103749000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:103748600-103748800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:103756800-103757600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:103756800-103757800	Enhancers	HSMMtube	muscle
49	chr5:103763400-103763600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:103763600-103764200	Enhancers	Placenta Amnion	Placenta Amnion

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