Variant report

Variant	esv2760318
Chromosome Location	chr13:90536888-90547262
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:90535683..90539242-chr13:90544865..90546775,3	K562	blood:
2	chr13:90535683..90539242-chr13:90544865..90546775,3	K562	blood:
3	chr13:90544412..90546341-chr13:90551514..90554190,2	K562	blood:
4	chr13:90539319..90541574-chr13:91998332..92001318,2	K562	blood:
5	chr13:90546450..90548296-chr13:90550837..90552817,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-27	chr13:90539777-90539848	NONHSAT034637
2	lnc-SLITRK6-27	chr13:90537509-90537789	NONHSAT034637

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544000473	chr13:90537526-90537527	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs562745271	chr13:90537541-90537542	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs557878376	chr13:90537554-90537555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs564689655	chr13:90537564-90537565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs529858585	chr13:90537572-90537573	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs369549703	chr13:90537581-90537582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs372567404	chr13:90537638-90537639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542061957	chr13:90537644-90537645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs375516690	chr13:90537645-90537646	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs575914414	chr13:90537672-90537673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs182187383	chr13:90537720-90537721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs368655816	chr13:90537786-90537787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs562894265	chr13:90539324-90539325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552175994	chr13:90539337-90539338	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537875366	chr13:90539338-90539339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548447961	chr13:90539396-90539397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556586773	chr13:90539408-90539409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143214514	chr13:90539432-90539433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146658265	chr13:90539475-90539476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10851287	chr13:90539476-90539477	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566374651	chr13:90539478-90539479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140305879	chr13:90539479-90539480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558244411	chr13:90539486-90539487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574963096	chr13:90539509-90539510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543085806	chr13:90539510-90539511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564373766	chr13:90539520-90539521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575963131	chr13:90539542-90539543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs61670781	chr13:90539555-90539556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537650272	chr13:90539564-90539565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537363364	chr13:90539565-90539566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543063609	chr13:90539593-90539594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9588791	chr13:90539638-90539639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554426913	chr13:90539720-90539721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574565321	chr13:90539735-90539736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377163223	chr13:90539745-90539746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529029434	chr13:90539777-90539778	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs186835221	chr13:90539781-90539782	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs550594326	chr13:90539791-90539792	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs144023271	chr13:90539798-90539799	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs9522782	chr13:90539818-90539819	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560373056	chr13:90539836-90539837	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs552427012	chr13:90539882-90539883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79008205	chr13:90539916-90539917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367706773	chr13:90539918-90539919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559560913	chr13:90539935-90539936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145012050	chr13:90539966-90539967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568537497	chr13:90539997-90539998	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10547696	chr13:90540073-90540074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535615298	chr13:90540096-90540097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554315877	chr13:90540135-90540136	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
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90543400-90544200	Enhancers	HUVEC	blood vessel

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