Variant report

Variant	nsv981009
Chromosome Location	chr5:43101558-43114874
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:88)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:43091142..43094449-chr5:43100206..43103441,4	K562	blood:
2	chr5:43105728..43107358-chr5:43108902..43110996,2	MCF-7	breast:
3	chr5:43101457..43103139-chr5:43103471..43105686,2	K562	blood:
4	chr5:43105846..43106397-chr5:43484063..43484740,2	MCF-7	breast:
5	chr5:43075422..43076276-chr5:43105573..43106434,2	K562	blood:
6	chr5:43108517..43110178-chr5:43120166..43121777,2	K562	blood:
7	chr5:43105933..43106799-chr5:43231939..43232721,2	MCF-7	breast:
8	chr5:43065471..43068340-chr5:43104546..43107830,5	MCF-7	breast:
9	chr5:43101457..43103139-chr5:43103471..43105686,2	K562	blood:
10	chr5:43107258..43109995-chr5:43119020..43121426,3	MCF-7	breast:
11	chr14:23770715..23771268-chr5:43105636..43106332,2	MCF-7	breast:
12	chr5:43042248..43043756-chr5:43105564..43106444,4	MCF-7	breast:
13	chr5:43105434..43106383-chr5:43389487..43390225,5	K562	blood:
14	chr5:43095711..43097819-chr5:43103481..43105400,3	K562	blood:
15	chr5:43101287..43104351-chr5:43114086..43116858,3	K562	blood:
16	chr5:43080895..43082640-chr5:43104421..43106273,2	K562	blood:
17	chr5:43105107..43107712-chr5:43109708..43111277,2	K562	blood:
18	chr5:43104984..43107316-chr5:43481507..43484344,2	MCF-7	breast:
19	chr5:43020169..43021187-chr5:43105538..43106105,3	MCF-7	breast:
20	chr5:43105944..43108297-chr5:43109238..43111708,2	K562	blood:
21	chr5:42912603..42915308-chr5:43106066..43109137,3	K562	blood:
22	chr5:43105963..43106477-chr5:43305783..43306702,2	K562	blood:
23	chr5:43038347..43039048-chr5:43105566..43106088,2	MCF-7	breast:
24	chr5:43010527..43011187-chr5:43105763..43106363,2	K562	blood:
25	chr5:43105410..43106390-chr5:43389516..43390438,5	MCF-7	breast:
26	chr5:43100915..43102957-chr5:43104186..43105960,2	K562	blood:
27	chr5:43083087..43086074-chr5:43102781..43107295,4	K562	blood:
28	chr5:43105728..43107358-chr5:43108902..43110996,2	MCF-7	breast:
29	chr5:43094835..43097495-chr5:43104345..43107086,3	K562	blood:
30	chr5:43064858..43067113-chr5:43104450..43107448,3	MCF-7	breast:
31	chr5:43072960..43074687-chr5:43105547..43106356,10	MCF-7	breast:
32	chr17:1939041..1939541-chr5:43105909..43106423,2	MCF-7	breast:
33	chr5:43105767..43106271-chr5:43227652..43228160,2	MCF-7	breast:
34	chr5:43042909..43043547-chr5:43105506..43106265,2	MCF-7	breast:
35	chr17:1939041..1939541-chr5:43105817..43106414,3	MCF-7	breast:
36	chr5:43105107..43107712-chr5:43109708..43111277,2	K562	blood:
37	chr5:43017696..43020523-chr5:43103007..43104951,2	MCF-7	breast:
38	chr2:102780138..102780638-chr5:43105918..43106425,2	MCF-7	breast:
39	chr5:43103532..43105928-chr5:43118167..43121743,5	K562	blood:
40	chr5:43103922..43107081-chr5:43109659..43112265,3	MCF-7	breast:
41	chr12:109193010..109193994-chr5:43105771..43106317,2	MCF-7	breast:
42	chr20:49411075..49411843-chr5:43105565..43106373,2	MCF-7	breast:
43	chr5:43110805..43112724-chr5:43118633..43123130,6	MCF-7	breast:
44	chr5:43078395..43080748-chr5:43104013..43106057,2	K562	blood:
45	chr5:42912223..42913017-chr5:43105562..43106421,4	MCF-7	breast:
46	chr5:43065870..43068626-chr5:43108656..43111085,2	MCF-7	breast:
47	chr5:43091526..43093494-chr5:43109085..43110636,2	K562	blood:
48	chr5:43074046..43076584-chr5:43103613..43105462,2	K562	blood:
49	chr5:42912040..42912962-chr5:43105448..43106382,6	MCF-7	breast:
50	chr5:43114776..43116634-chr5:43190227..43192652,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf39-6	chr5:43101047-43102830	refGeneNc_4406_NR_034127
2	lnc-AC114947.1.1-7	chr5:43103440-43103645	ucscGeneNc_uc010ivk_1
3	lnc-AC114947.1.1-7	chr5:43103829-43104076	ucscGeneNc_uc010ivk_1

No data

Variant related genes	Relation type
ENSG00000124243	chromatin interactions
ENSG00000235194	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000249888	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000188850	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000177721	chromatin interactions
ENSG00000130558	chromatin interactions
ENSG00000177453	chromatin interactions
ENSG00000215068	chromatin interactions
ENSG00000151881	chromatin interactions

Extended variants
information (count: 571 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189477614	chr5:43101580-43101581	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs368174418	chr5:43101668-43101669	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs143636825	chr5:43101675-43101676	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs62367736	chr5:43101677-43101678	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs143105923	chr5:43101687-43101688	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs532323164	chr5:43101700-43101701	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs148246364	chr5:43101721-43101722	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs111926971	chr5:43101729-43101730	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs540245852	chr5:43101752-43101753	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs536443494	chr5:43101761-43101762	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs371993596	chr5:43101776-43101777	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548352665	chr5:43101782-43101783	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs566576656	chr5:43101860-43101861	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs533831607	chr5:43101943-43101944	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs367655376	chr5:43101967-43101968	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs11747571	chr5:43102064-43102065	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs368464313	chr5:43102078-43102079	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs554900870	chr5:43102086-43102087	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs532259892	chr5:43102106-43102107	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs150794753	chr5:43102151-43102152	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs557623461	chr5:43102152-43102153	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs575793593	chr5:43102166-43102167	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs576462382	chr5:43102189-43102190	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs543522966	chr5:43102192-43102193	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs138248479	chr5:43102197-43102198	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs142736612	chr5:43102234-43102235	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs573013487	chr5:43102344-43102345	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs540304399	chr5:43102383-43102384	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs565165652	chr5:43102396-43102397	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs193007938	chr5:43102412-43102413	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs544223411	chr5:43102492-43102493	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs562667434	chr5:43102539-43102540	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs56308795	chr5:43102545-43102546	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs202198139	chr5:43102546-43102547	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs185134425	chr5:43102550-43102551	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529868167	chr5:43102554-43102555	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs13171192	chr5:43102668-43102669	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs548415638	chr5:43102686-43102687	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs566638445	chr5:43102776-43102777	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs78527323	chr5:43102786-43102787	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs372038889	chr5:43102796-43102797	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs527411056	chr5:43102812-43102813	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs552233571	chr5:43102815-43102816	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs146096964	chr5:43102848-43102849	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537843835	chr5:43102919-43102920	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555837289	chr5:43103007-43103008	Strong transcription Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569215246	chr5:43103020-43103021	Strong transcription Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs536510803	chr5:43103087-43103088	Strong transcription Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376416988	chr5:43103107-43103108	Strong transcription Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369316082	chr5:43103112-43103113	Strong transcription Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43070000-43105400	Weak transcription	HSMMtube	muscle
2	chr5:43071800-43101600	Weak transcription	Esophagus	oesophagus
3	chr5:43071800-43105400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:43072400-43104200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:43075600-43101600	Weak transcription	Left Ventricle	heart
6	chr5:43075600-43105000	Weak transcription	NHLF	lung
7	chr5:43075600-43105400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:43075600-43105400	Weak transcription	Psoas Muscle	Psoas
9	chr5:43075800-43103000	Weak transcription	Spleen	Spleen
10	chr5:43075800-43105400	Weak transcription	Right Ventricle	heart
11	chr5:43075800-43105600	Weak transcription	Pancreas	Pancrea
12	chr5:43076000-43104200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:43076200-43105400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:43077800-43104600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:43078600-43104200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:43079400-43105400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:43080200-43105600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:43080800-43104600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:43081000-43105600	Weak transcription	Brain Germinal Matrix	brain
20	chr5:43081200-43105400	Weak transcription	Brain Substantia Nigra	brain
21	chr5:43081200-43105400	Weak transcription	NHDF-Ad	bronchial
22	chr5:43081400-43105400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:43081400-43105400	Weak transcription	Brain Anterior Caudate	brain
24	chr5:43081400-43105400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:43081800-43105400	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:43081800-43105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:43082000-43105400	Weak transcription	Liver	Liver
28	chr5:43082200-43104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:43082400-43105400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:43084800-43105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:43084800-43105400	Weak transcription	Fetal Kidney	kidney
32	chr5:43085000-43105400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:43085000-43105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:43085400-43104600	Weak transcription	Osteobl	bone
35	chr5:43085800-43101600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:43085800-43104200	Weak transcription	Thymus	Thymus
37	chr5:43086000-43105200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:43086000-43105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:43086000-43106000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:43086400-43105400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:43088400-43101800	Weak transcription	Right Atrium	heart
42	chr5:43090600-43104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:43091400-43105400	Weak transcription	Fetal Intestine Small	intestine
44	chr5:43091600-43105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:43092000-43104200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:43092200-43105400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:43092400-43104200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:43092400-43105400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:43092800-43105200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr5:43092800-43105600	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links