Variant report

Variant	nsv976220
Chromosome Location	chr13:91903076-91913219
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91901360..91903216-chr13:91999281..92001783,2	K562	blood:
2	chr13:91906077..91908122-chr13:92005714..92008494,2	K562	blood:
3	chr11:2326274..2326822-chr13:91904534..91905054,2	MCF-7	breast:
4	chr13:91910219..91913312-chr13:92006561..92009211,3	K562	blood:
5	chr13:91908077..91911609-chr13:91997821..92003211,7	K562	blood:
6	chr13:91887562..91890351-chr13:91903749..91906128,3	K562	blood:
7	chr13:91906024..91907715-chr13:91909049..91911463,2	K562	blood:
8	chr13:91906209..91908561-chr13:91911500..91913092,2	K562	blood:
9	chr13:91906215..91907948-chr13:91909963..91911791,2	K562	blood:
10	chr13:91903377..91907424-chr13:91999812..92002571,4	K562	blood:
11	chr13:91910619..91912846-chr13:91992735..91994745,2	K562	blood:
12	chr13:91899198..91903268-chr13:91905718..91908009,3	K562	blood:
13	chr13:91887562..91890351-chr13:91903749..91905859,2	K562	blood:
14	chr13:91906209..91908561-chr13:91911500..91913092,2	K562	blood:
15	chr13:91897761..91904877-chr13:91998004..92004019,9	K562	blood:
16	chr13:91906024..91907715-chr13:91909049..91911463,2	K562	blood:
17	chr13:91887329..91890707-chr13:91908939..91913306,4	K562	blood:
18	chr13:91906437..91909303-chr13:91916493..91918143,2	K562	blood:
19	chr13:91907666..91909561-chr13:92007500..92010207,2	K562	blood:
20	chr13:91902307..91904789-chr13:92006399..92008765,3	K562	blood:
21	chr13:91907805..91909994-chr13:92010995..92013406,3	K562	blood:
22	chr13:91906215..91907948-chr13:91909963..91911791,2	K562	blood:
23	chr13:91892375..91894811-chr13:91902277..91905076,2	K562	blood:
24	chr13:91899198..91903268-chr13:91905718..91908009,3	K562	blood:
25	chr13:91909152..91910913-chr13:91998865..92000833,2	K562	blood:
26	chr13:91911211..91913931-chr13:91999547..92003212,4	K562	blood:
27	chr13:91901797..91903631-chr13:91908143..91910086,2	K562	blood:
28	chr13:91905342..91907937-chr13:91915551..91917993,2	K562	blood:
29	chr13:91813911..91816549-chr13:91910671..91913045,2	K562	blood:
30	chr13:91901797..91903631-chr13:91908143..91910086,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-5	chr13:91903888-91903985	NONHSAT034663
2	lnc-GPC5-5	chr13:91905839-91906176	NONHSAT034663

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 357 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189439514	chr13:91903081-91903082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546462810	chr13:91903106-91903107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534296122	chr13:91903212-91903213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9301724	chr13:91903234-91903235	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538530026	chr13:91903245-91903246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556842668	chr13:91903246-91903247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117359792	chr13:91903275-91903276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569233908	chr13:91903278-91903279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs16945667	chr13:91903307-91903308	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368153712	chr13:91903309-91903310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2149966	chr13:91903374-91903375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370657514	chr13:91903402-91903403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2149967	chr13:91903403-91903404	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554036026	chr13:91903470-91903471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369520139	chr13:91903513-91903514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs180777597	chr13:91903568-91903569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546142205	chr13:91903604-91903605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562835237	chr13:91903625-91903626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115763898	chr13:91903634-91903635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543785952	chr13:91903646-91903647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560585159	chr13:91903656-91903657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574397051	chr13:91903659-91903660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149386513	chr13:91903686-91903687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116200577	chr13:91903694-91903695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576050428	chr13:91903769-91903770	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533812671	chr13:91903777-91903778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186244094	chr13:91903811-91903812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191168145	chr13:91903812-91903813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569170469	chr13:91903830-91903831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538170273	chr13:91903842-91903843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576583707	chr13:91903902-91903903	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs6492533	chr13:91903927-91903928	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148572160	chr13:91903989-91903990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534007546	chr13:91903993-91903994	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142917751	chr13:91903999-91904000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577308998	chr13:91904000-91904001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147708718	chr13:91904004-91904005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556369252	chr13:91904005-91904006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576316780	chr13:91904031-91904032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542133193	chr13:91904048-91904049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141022434	chr13:91904058-91904059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574379228	chr13:91904137-91904138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183286605	chr13:91904138-91904139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144896318	chr13:91904179-91904180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9556074	chr13:91904181-91904182	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545956798	chr13:91904268-91904269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368487110	chr13:91904285-91904286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531599417	chr13:91904304-91904305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548522891	chr13:91904308-91904309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570852345	chr13:91904309-91904310	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:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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