Variant report

Variant	nsv974254
Chromosome Location	chr13:92287670-92291822
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92283995..92287904-chr13:92288283..92291750,3	K562	blood:
2	chr13:92003213..92005889-chr13:92288961..92291076,2	K562	blood:
3	chr13:92283995..92286774-chr13:92288124..92290594,3	K562	blood:
4	chr13:92280416..92282576-chr13:92286859..92289311,3	K562	blood:
5	chr13:92291806..92294892-chr13:92297523..92300021,4	K562	blood:
6	chr13:92280416..92282576-chr13:92285378..92288732,3	K562	blood:
7	chr13:92277162..92279157-chr13:92289932..92291613,2	K562	blood:
8	chr13:92283995..92287904-chr13:92288283..92291750,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557643587	chr13:92287744-92287745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79446303	chr13:92287777-92287778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576139760	chr13:92287787-92287788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541766614	chr13:92287852-92287853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372595758	chr13:92287862-92287863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7334052	chr13:92287864-92287865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149241303	chr13:92287888-92287889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188971111	chr13:92287975-92287976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528802093	chr13:92287977-92287978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144516705	chr13:92287981-92287982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148429007	chr13:92287995-92287996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561222379	chr13:92288009-92288010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543854581	chr13:92288025-92288026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545764940	chr13:92288068-92288069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574917715	chr13:92288078-92288079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150956728	chr13:92288083-92288084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563743163	chr13:92288149-92288150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117324558	chr13:92288159-92288160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536874046	chr13:92288176-92288177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1326745	chr13:92288181-92288182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7317200	chr13:92288215-92288216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181925347	chr13:92288218-92288219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185873602	chr13:92288220-92288221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570085869	chr13:92288241-92288242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142539643	chr13:92288279-92288280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563230839	chr13:92288292-92288293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1326746	chr13:92288319-92288320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77489749	chr13:92288329-92288330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548813779	chr13:92288349-92288350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147618261	chr13:92288350-92288351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535685637	chr13:92288401-92288402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80337617	chr13:92288410-92288411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572400876	chr13:92288439-92288440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529825681	chr13:92288561-92288562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541295693	chr13:92288576-92288577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558188841	chr13:92288598-92288599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577932184	chr13:92288608-92288609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1359693	chr13:92288644-92288645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs35642587	chr13:92288653-92288654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563855087	chr13:92288656-92288657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140471964	chr13:92288674-92288675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9589319	chr13:92288696-92288697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115011410	chr13:92288701-92288702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144874102	chr13:92288707-92288708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374325592	chr13:92288708-92288709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528782623	chr13:92288734-92288735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144536121	chr13:92288784-92288785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80051789	chr13:92288797-92288798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554758827	chr13:92288826-92288827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189111010	chr13:92288858-92288859	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92286000-92288600	Weak transcription	Hela-S3	cervix
2	chr13:92288600-92292800	Enhancers	Hela-S3	cervix

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