Variant report

Variant	nsv976141
Chromosome Location	chr13:91923381-91926536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr13:91925293-91925297	K562	blood:	n/a	n/a
2	CEBPB	chr13:91925958-91926325	HepG2	liver:	n/a	chr13:91926151-91926162
3	E2F4	chr13:91923609-91923897	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr13:91926335-91926345	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91922956..91924872-chr13:91999191..92001609,2	K562	blood:
2	chr13:91921057..91924043-chr13:92006165..92008543,2	K562	blood:
3	chr13:91925284..91927675-chr13:92003883..92005533,2	K562	blood:
4	chr13:91920712..91923592-chr13:92007874..92010601,2	K562	blood:
5	chr13:91925141..91926694-chr13:92150177..92152506,2	K562	blood:
6	chr13:91925469..91927024-chr13:91999813..92001365,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCT-17	chr13:91924335-91924831	NONHSAT034664

No data

Variant related genes	Relation type
PPIAP23	TF binding region
ENSG00000215417	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533128002	chr13:91923382-91923383	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76231874	chr13:91923384-91923385	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185224992	chr13:91923405-91923406	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10492547	chr13:91923458-91923459	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553950841	chr13:91923476-91923477	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11839632	chr13:91923501-91923502	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539724998	chr13:91923517-91923518	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556244011	chr13:91923530-91923531	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11838383	chr13:91923576-91923577	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115026523	chr13:91923642-91923643	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11839661	chr13:91923650-91923651	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572222202	chr13:91923652-91923653	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541238272	chr13:91923676-91923677	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112317465	chr13:91923684-91923685	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191245741	chr13:91923716-91923717	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78424380	chr13:91923751-91923752	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183046475	chr13:91923753-91923754	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564017021	chr13:91923791-91923792	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371779717	chr13:91923815-91923816	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531308787	chr13:91923827-91923828	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561164062	chr13:91923897-91923898	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568129759	chr13:91923913-91923914	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533899428	chr13:91923919-91923920	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547231771	chr13:91923922-91923923	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9560768	chr13:91923924-91923925	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570636597	chr13:91923946-91923947	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539295688	chr13:91923961-91923962	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376294905	chr13:91924078-91924079	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530107817	chr13:91924086-91924087	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78305014	chr13:91924111-91924112	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372482697	chr13:91924122-91924123	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs16945704	chr13:91924150-91924151	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144483725	chr13:91924199-91924200	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186838334	chr13:91924206-91924207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572160952	chr13:91924223-91924224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541523531	chr13:91924240-91924241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564461583	chr13:91924346-91924347	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs578119441	chr13:91924361-91924362	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs543681844	chr13:91924370-91924371	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs147886076	chr13:91924405-91924406	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs529631544	chr13:91924415-91924416	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs548181555	chr13:91924469-91924470	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs9589174	chr13:91924472-91924473	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs527358147	chr13:91924507-91924508	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs571520757	chr13:91924521-91924522	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs547460764	chr13:91924536-91924537	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs191676713	chr13:91924538-91924539	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs533130153	chr13:91924545-91924546	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs549745822	chr13:91924578-91924579	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs569584264	chr13:91924595-91924596	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91922800-91924200	Enhancers	Dnd41	blood
2	chr13:91924200-91931200	Weak transcription	Dnd41	blood

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