Variant report

Variant	esv3519308
Chromosome Location	chr13:91902076-91904416
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91901797..91903631-chr13:91908143..91910086,2	K562	blood:
2	chr13:91887562..91890351-chr13:91903749..91906128,3	K562	blood:
3	chr13:91902307..91904789-chr13:92006399..92008765,3	K562	blood:
4	chr13:91897761..91904877-chr13:91998004..92004019,9	K562	blood:
5	chr13:91899198..91903268-chr13:91905718..91908009,3	K562	blood:
6	chr13:91887562..91890351-chr13:91903749..91905859,2	K562	blood:
7	chr13:91892375..91894811-chr13:91902277..91905076,2	K562	blood:
8	chr13:91903377..91907424-chr13:91999812..92002571,4	K562	blood:
9	chr13:91901360..91903216-chr13:91999281..92001783,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-5	chr13:91903888-91903985	NONHSAT034663

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72638992	chr13:91902077-91902078	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568417265	chr13:91902078-91902079	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532884532	chr13:91902080-91902081	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551065497	chr13:91902172-91902173	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372666736	chr13:91902209-91902210	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571254314	chr13:91902213-91902214	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190276616	chr13:91902231-91902232	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550266261	chr13:91902318-91902319	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs377335519	chr13:91902320-91902321	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1983980	chr13:91902331-91902332	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376889697	chr13:91902390-91902391	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567085293	chr13:91902395-91902396	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536032615	chr13:91902469-91902470	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553182122	chr13:91902491-91902492	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568479319	chr13:91902495-91902496	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566632923	chr13:91902531-91902532	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181775030	chr13:91902553-91902554	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558646255	chr13:91902561-91902562	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373283043	chr13:91902575-91902576	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544669281	chr13:91902612-91902613	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555109829	chr13:91902664-91902665	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146066839	chr13:91902665-91902666	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540826571	chr13:91902671-91902672	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560763032	chr13:91902722-91902723	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527949574	chr13:91902778-91902779	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546489829	chr13:91902804-91902805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114862042	chr13:91902826-91902827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34487786	chr13:91902851-91902852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548083729	chr13:91902942-91902943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140006896	chr13:91902973-91902974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374650631	chr13:91902974-91902975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186360202	chr13:91903018-91903019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560648832	chr13:91903040-91903041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376425899	chr13:91903050-91903051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189439514	chr13:91903081-91903082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546462810	chr13:91903106-91903107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534296122	chr13:91903212-91903213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs9301724	chr13:91903234-91903235	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538530026	chr13:91903245-91903246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556842668	chr13:91903246-91903247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117359792	chr13:91903275-91903276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569233908	chr13:91903278-91903279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs16945667	chr13:91903307-91903308	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368153712	chr13:91903309-91903310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2149966	chr13:91903374-91903375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370657514	chr13:91903402-91903403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2149967	chr13:91903403-91903404	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554036026	chr13:91903470-91903471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369520139	chr13:91903513-91903514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180777597	chr13:91903568-91903569	Inactive region	Chromatin interactive region	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91894200-91902600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:91898000-91902800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:91901200-91902200	Enhancers	Fetal Intestine Large	intestine
4	chr13:91901200-91902200	Enhancers	Fetal Intestine Small	intestine
5	chr13:91902000-91902200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr13:91902000-91902800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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