Variant report

Variant	nsv562645
Chromosome Location	chr13:90644957-90695255
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:90657506..90660360-chr13:90660481..90662181,2	K562	blood:
2	chr13:90657506..90660360-chr13:90660481..90662181,2	K562	blood:
3	chr13:90680961..90684661-chr13:90686168..90687885,3	K562	blood:
4	chr13:90680163..90682720-chr13:90682917..90684515,2	MCF-7	breast:
5	chr13:90645856..90648363-chr13:90649995..90652582,2	K562	blood:
6	chr13:90682063..90683657-chr13:90684958..90687668,2	K562	blood:
7	chr13:90667886..90670751-chr13:90674411..90676398,2	K562	blood:
8	chr13:90645856..90648363-chr13:90649995..90652582,2	K562	blood:
9	chr13:90667886..90670751-chr13:90674411..90676398,2	K562	blood:
10	chr13:90680163..90682720-chr13:90682917..90684515,2	MCF-7	breast:
11	chr13:90666797..90668526-chr13:90671482..90673730,2	K562	blood:
12	chr13:90658350..90660347-chr13:90668884..90670717,2	K562	blood:
13	chr13:90658350..90660347-chr13:90668884..90670717,2	K562	blood:
14	chr13:90680961..90684661-chr13:90686168..90687885,3	K562	blood:
15	chr13:90666797..90668526-chr13:90671482..90673730,2	K562	blood:
16	chr13:90676596..90678384-chr13:91998649..92001397,2	K562	blood:
17	chr13:90687289..90689665-chr13:90743498..90745958,2	K562	blood:
18	chr13:90682063..90683657-chr13:90684958..90687668,2	K562	blood:
19	chr13:90686920..90689377-chr13:90707957..90709473,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 468 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7989743	chr13:90644957-90644958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180919722	chr13:90645000-90645001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528205375	chr13:90645004-90645005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546651522	chr13:90645013-90645014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377023640	chr13:90645016-90645017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142399693	chr13:90645028-90645029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551793752	chr13:90645031-90645032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151338721	chr13:90645052-90645053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141836595	chr13:90645080-90645081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555836630	chr13:90645081-90645082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574063001	chr13:90645223-90645224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369478775	chr13:90645227-90645228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7321841	chr13:90645244-90645245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185785234	chr13:90645258-90645259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577773035	chr13:90645287-90645288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190688959	chr13:90645358-90645359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144240672	chr13:90645390-90645391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147763302	chr13:90645401-90645402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376358813	chr13:90645419-90645420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542498171	chr13:90645423-90645424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7326085	chr13:90645471-90645472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528047947	chr13:90645493-90645494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546393366	chr13:90645539-90645540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564953279	chr13:90645550-90645551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11620073	chr13:90645631-90645632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117916887	chr13:90645657-90645658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551994145	chr13:90645660-90645661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570251982	chr13:90645681-90645682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537772973	chr13:90645695-90645696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549672352	chr13:90645707-90645708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567681758	chr13:90645717-90645718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200374395	chr13:90645728-90645729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534978807	chr13:90645745-90645746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553195299	chr13:90645748-90645749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141229357	chr13:90645780-90645781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540789301	chr13:90645786-90645787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531226809	chr13:90651203-90651204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549393172	chr13:90651204-90651205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567531865	chr13:90651210-90651211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12584159	chr13:90651295-90651296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78992908	chr13:90651318-90651319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553158398	chr13:90651340-90651341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375424968	chr13:90651442-90651443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7999549	chr13:90651446-90651447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150143103	chr13:90651456-90651457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538402343	chr13:90651484-90651485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549709219	chr13:90651487-90651488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1361601	chr13:90651537-90651538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575190638	chr13:90651549-90651550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542539863	chr13:90651559-90651560	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90644000-90645400	Enhancers	Brain Angular Gyrus	brain
2	chr13:90644400-90645800	Enhancers	Brain Hippocampus Middle	brain
3	chr13:90644600-90645000	Enhancers	Fetal Heart	heart
4	chr13:90644600-90645800	Enhancers	Brain Substantia Nigra	brain
5	chr13:90651200-90651600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:90659400-90659600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:90659600-90659800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:90659600-90660600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:90659600-90661800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:90659800-90660800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:90659800-90661000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr13:90660000-90661000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr13:90660000-90661200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:90660600-90661200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:90660800-90661000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:90660800-90661200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:90660800-90661400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:90660800-90662000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:90661000-90661400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr13:90661000-90661400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr13:90661000-90661400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr13:90661000-90661400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr13:90661000-90661400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr13:90661000-90661400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr13:90661000-90661800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr13:90661200-90661600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr13:90661400-90661600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:90661400-90662200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:90661400-90662200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:90661600-90661800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:90661800-90664000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr13:90664000-90664200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr13:90664200-90664600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr13:90664600-90665200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr13:90668200-90668600	Enhancers	NH-A	brain
36	chr13:90672400-90672800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:90672600-90673000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:90672800-90673400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:90673000-90673400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:90673400-90673600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:90673400-90673600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:90679800-90680200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:90685400-90685600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:90694600-90697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links