Variant report

Variant	nsv1124
Chromosome Location	chr13:93242968-93289282
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:93245624..93248556-chr13:93249353..93251806,3	K562	blood:
2	chr13:93245624..93248556-chr13:93249353..93251806,3	K562	blood:
3	chr13:93273565..93275708-chr13:93279729..93281510,2	K562	blood:
4	chr13:93281680..93284628-chr13:93314114..93316635,2	K562	blood:
5	chr13:93273565..93275708-chr13:93279729..93281510,2	K562	blood:
6	chr13:93228704..93231280-chr13:93244636..93246589,2	K562	blood:
7	chr13:93239441..93241282-chr13:93243358..93246223,2	K562	blood:
8	chr13:93281728..93283800-chr13:93286450..93288614,2	K562	blood:
9	chr13:93281728..93283800-chr13:93286450..93288614,2	K562	blood:
10	chr13:93282740..93284834-chr13:93292372..93295262,2	K562	blood:
11	chr13:93289108..93290701-chr13:93292511..93295289,2	K562	blood:

No data

Extended variants
information (count: 1355 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1355 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56106244	chr13:93242974-93242975	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79211193	chr13:93242975-93242976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548452997	chr13:93242988-93242989	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191728425	chr13:93242994-93242995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114880198	chr13:93243049-93243050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376046244	chr13:93243050-93243051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553652829	chr13:93243091-93243092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146920828	chr13:93243105-93243106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370013243	chr13:93243111-93243112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369383085	chr13:93243137-93243138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539893326	chr13:93243175-93243176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556640188	chr13:93243210-93243211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576492491	chr13:93243227-93243228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184017042	chr13:93243256-93243257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556003307	chr13:93243294-93243295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572622453	chr13:93243301-93243302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75936070	chr13:93243349-93243350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564477976	chr13:93243351-93243352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147982843	chr13:93243366-93243367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533603242	chr13:93243380-93243381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201945022	chr13:93243416-93243417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373040589	chr13:93243459-93243460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562178788	chr13:93243489-93243490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375085974	chr13:93243493-93243494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531189861	chr13:93243505-93243506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9556194	chr13:93243514-93243515	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568361723	chr13:93243540-93243541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527553646	chr13:93243541-93243542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140869227	chr13:93243550-93243551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570655936	chr13:93243570-93243571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188967431	chr13:93243587-93243588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377273511	chr13:93243599-93243600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566122596	chr13:93243618-93243619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556676991	chr13:93243623-93243624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17267214	chr13:93243648-93243649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192531534	chr13:93243681-93243682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183660828	chr13:93243682-93243683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572706773	chr13:93243741-93243742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541358566	chr13:93243744-93243745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557970744	chr13:93243763-93243764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577801390	chr13:93243793-93243794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545525120	chr13:93243797-93243798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373748876	chr13:93243798-93243799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562267587	chr13:93243807-93243808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11620216	chr13:93243817-93243818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534124638	chr13:93243856-93243857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80069440	chr13:93243895-93243896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200785371	chr13:93243951-93243952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561477149	chr13:93243973-93243974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78724684	chr13:93243974-93243975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93237200-93277400	Weak transcription	Right Atrium	heart
2	chr13:93242200-93243600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:93242200-93243800	Enhancers	NH-A	brain
4	chr13:93242400-93243000	Enhancers	NHEK	skin
5	chr13:93242600-93243000	Flanking Active TSS	Hela-S3	cervix
6	chr13:93242600-93243600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:93242600-93243600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:93243000-93243600	Enhancers	Hela-S3	cervix
9	chr13:93249800-93250800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:93250800-93251200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:93251200-93252400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr13:93252400-93254600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:93254600-93255000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:93254600-93255400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:93254600-93255400	Enhancers	NH-A	brain
16	chr13:93261800-93263200	Enhancers	Fetal Intestine Large	intestine
17	chr13:93270400-93271600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:93271000-93271800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:93271000-93272000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:93271200-93271800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:93287800-93289000	Enhancers	Fetal Heart	heart
22	chr13:93288400-93288800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links