Variant report

Variant	esv3441334
Chromosome Location	chr13:92358169-92369953
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92351988..92354291-chr13:92355999..92358274,2	K562	blood:
2	chr13:92367826..92370130-chr13:92386601..92389593,3	K562	blood:
3	chr13:92360463..92365110-chr13:92381034..92383845,4	K562	blood:
4	chr13:92367060..92370177-chr13:92371319..92374690,3	K562	blood:
5	chr13:92011441..92013095-chr13:92360368..92362674,2	K562	blood:
6	chr13:92008998..92011983-chr13:92367729..92370311,3	K562	blood:
7	chr13:92350372..92352433-chr13:92358540..92361145,2	K562	blood:
8	chr13:92359085..92361584-chr13:92399636..92402308,3	K562	blood:
9	chr13:92357827..92359421-chr13:92380586..92382963,2	K562	blood:
10	chr13:92352994..92355356-chr13:92358683..92361622,2	K562	blood:
11	chr13:91999695..92001693-chr13:92369101..92370958,3	K562	blood:
12	chr13:92008545..92011315-chr13:92356564..92359344,2	K562	blood:
13	chr13:92000792..92003094-chr13:92364428..92366046,2	K562	blood:
14	chr13:92003420..92005898-chr13:92360065..92363004,2	K562	blood:
15	chr13:91999809..92002050-chr13:92364796..92366548,2	K562	blood:
16	chr13:92363299..92365110-chr13:92382345..92384889,2	K562	blood:
17	chr13:91998255..92000962-chr13:92357552..92359516,2	K562	blood:
18	chr13:92360673..92364481-chr13:92372533..92375475,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562481958	chr13:92358174-92358175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568524081	chr13:92358195-92358196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531411311	chr13:92358200-92358201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548128860	chr13:92358203-92358204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528997559	chr13:92358233-92358234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561534661	chr13:92358244-92358245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76813340	chr13:92358255-92358256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185112855	chr13:92358340-92358341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570532968	chr13:92358345-92358346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149930645	chr13:92358365-92358366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189911971	chr13:92358375-92358376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570098387	chr13:92358376-92358377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183438159	chr13:92358418-92358419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144977102	chr13:92358423-92358424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565745298	chr13:92358447-92358448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572627370	chr13:92358509-92358510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534365209	chr13:92358534-92358535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535363855	chr13:92358619-92358620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558457564	chr13:92358635-92358636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373212032	chr13:92358658-92358659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149114590	chr13:92358659-92358660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111868089	chr13:92358712-92358713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371264873	chr13:92358789-92358790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144481871	chr13:92358796-92358797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571568910	chr13:92358832-92358833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147882624	chr13:92358835-92358836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541867722	chr13:92358893-92358894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188333629	chr13:92358895-92358896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115149866	chr13:92358918-92358919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs342691	chr13:92358921-92358922	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs72643270	chr13:92358938-92358939	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533253753	chr13:92358955-92358956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574559725	chr13:92359055-92359056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549948382	chr13:92359117-92359118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569993931	chr13:92359124-92359125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529373414	chr13:92359144-92359145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370079130	chr13:92359176-92359177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549472206	chr13:92359293-92359294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566295104	chr13:92359297-92359298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535269589	chr13:92359314-92359315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147072691	chr13:92359324-92359325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572014471	chr13:92359338-92359339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537737590	chr13:92359344-92359345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148112640	chr13:92359350-92359351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575944475	chr13:92359372-92359373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183791892	chr13:92359411-92359412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373172577	chr13:92359437-92359438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75636062	chr13:92359465-92359466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187789246	chr13:92359481-92359482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76777823	chr13:92359496-92359497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92360600-92360800	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr13:92360600-92360800	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr13:92360600-92362400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr13:92361000-92362000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:92361200-92361400	Enhancers	Colon Smooth Muscle	Colon
6	chr13:92362000-92362200	Enhancers	Colon Smooth Muscle	Colon
7	chr13:92362000-92362400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr13:92366800-92367400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:92367000-92367200	Enhancers	Brain Substantia Nigra	brain
10	chr13:92367000-92367400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:92367200-92367600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:92369600-92369800	Enhancers	Hela-S3	cervix
13	chr13:92369800-92370800	Weak transcription	Hela-S3	cervix

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