Variant report

Variant	nsv614341
Chromosome Location	chr9:43314875-43354573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:43343822-43343879	GM10266	blood:	n/a	n/a
2	CTCF	chr9:43341390-43341591	HepG2	liver:	n/a	n/a
3	CTCF	chr9:43335382-43335606	K562	blood:	n/a	n/a
4	CTCF	chr9:43341408-43341577	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr9:43335287-43335666	A549	lung:	n/a	n/a
6	CTCF	chr9:43341386-43341606	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr9:43341987-43342057	GM10266	blood:	n/a	n/a
8	CTCF	chr9:43330718-43330770	GM10248	blood:	n/a	n/a
9	CTCF	chr9:43341408-43341612	LNCaP	prostate:	n/a	n/a
10	CTCF	chr9:43341397-43341590	GM19239	blood:	n/a	n/a
11	CTCF	chr9:43353638-43353652	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr9:43341261-43341631	A549	lung:	n/a	n/a
13	CTCF	chr9:43321132-43321147	GM13976	blood:	n/a	n/a
14	CTCF	chr9:43341397-43341592	Gliobla	brain:	n/a	n/a
15	CTCF	chr9:43341343-43341666	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr9:43321004-43321125	MCF-7	breast:	n/a	n/a
17	CTCF	chr9:43341392-43341613	LNCaP	prostate:	n/a	n/a
18	CTCF	chr9:43320815-43321216	A549	lung:	n/a	n/a
19	CTCF	chr9:43341394-43341583	NHEK	skin:	n/a	n/a
20	CTCF	chr9:43341417-43341534	Fibrobl	skin:	n/a	n/a
21	CTCF	chr9:43341372-43341420	GM13977	blood:	n/a	n/a
22	CTCF	chr9:43341355-43341619	Medullo	brain:	n/a	n/a
23	CTCF	chr9:43341244-43341768	A549	lung:	n/a	n/a
24	CTCF	chr9:43341422-43341541	GM19240	blood:	n/a	n/a
25	CTCF	chr9:43341326-43341673	K562	blood:	n/a	n/a
26	CTCF	chr9:43321067-43321088	GM19239	blood:	n/a	n/a
27	CTCF	chr9:43320979-43321131	MCF-7	breast:	n/a	n/a
28	CTCF	chr9:43320771-43321249	A549	lung:	n/a	n/a
29	CTCF	chr9:43319743-43319832	GM10266	blood:	n/a	n/a
30	CTCF	chr9:43321001-43321114	GM12878	blood:	n/a	n/a
31	CTCF	chr9:43341402-43341565	A549	lung:	n/a	n/a
32	CTCF	chr9:43341383-43341644	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr9:43335462-43335495	A549	lung:	n/a	n/a
34	CTCF	chr9:43341264-43341654	A549	lung:	n/a	n/a
35	CTCF	chr9:43341776-43341857	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr9:43341391-43341582	GM12878	blood:	n/a	n/a
37	CTCF	chr9:43321036-43321129	Medullo	brain:	n/a	n/a
38	CTCF	chr9:43341476-43341556	GM13977	blood:	n/a	n/a
39	CTCF	chr9:43321075-43321079	LNCaP	prostate:	n/a	n/a
40	CTCF	chr9:43341363-43341597	K562	blood:	n/a	n/a
41	CTCF	chr9:43341364-43341622	GM10248	blood:	n/a	n/a
42	CTCF	chr9:43341411-43341567	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr9:43335460-43335543	HepG2	liver:	n/a	n/a
44	CTCF	chr9:43320972-43321053	GM10248	blood:	n/a	n/a
45	CTCF	chr9:43341453-43341460	GM13977	blood:	n/a	n/a
46	CTCF	chr9:43341490-43341501	GM20000	blood:	n/a	n/a
47	CTCF	chr9:43341408-43341568	ProgFib	skin:	n/a	n/a
48	CTCF	chr9:43323336-43323368	Lung_OC	lung:	n/a	n/a
49	CTCF	chr9:43350560-43350577	Lung_OC	lung:	n/a	n/a
50	CTCF	chr9:43341337-43341610	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-11	chr9:43318619-43318952	NONHSAT131357
2	lnc-ANKRD20A3-11	chr9:43319264-43319576	NONHSAT131357

No data

Variant related genes	Relation type
ENSG00000224828	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28375822	chr9:43314875-43314876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587727958	chr9:43314889-43314890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183985261	chr9:43314894-43314895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35697289	chr9:43314969-43314970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587661967	chr9:43314990-43314991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587768075	chr9:43314993-43314994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587641947	chr9:43315016-43315017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35212848	chr9:43315020-43315021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188960133	chr9:43315028-43315029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587774060	chr9:43315044-43315045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587608500	chr9:43315079-43315080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587692404	chr9:43315090-43315091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587748519	chr9:43315092-43315093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181639645	chr9:43315096-43315097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587701460	chr9:43315101-43315102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115634005	chr9:43315103-43315104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587642932	chr9:43315115-43315116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187298177	chr9:43315117-43315118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142126551	chr9:43315119-43315120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138700764	chr9:43315120-43315121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587713061	chr9:43315127-43315128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192406016	chr9:43315128-43315129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112838958	chr9:43315140-43315141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2321339	chr9:43315169-43315170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587667039	chr9:43315202-43315203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587768360	chr9:43315207-43315208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587645959	chr9:43315224-43315225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587680783	chr9:43315257-43315258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2321340	chr9:43315277-43315278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587613815	chr9:43315286-43315287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587691465	chr9:43315292-43315293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145028572	chr9:43315307-43315308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587630941	chr9:43315318-43315319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587685802	chr9:43315319-43315320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587769257	chr9:43315320-43315321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587644756	chr9:43315324-43315325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182024896	chr9:43315328-43315329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2321342	chr9:43315332-43315333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587757840	chr9:43315362-43315363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2321343	chr9:43315406-43315407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2321344	chr9:43315452-43315453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587658436	chr9:43315454-43315455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587707509	chr9:43315490-43315491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587611981	chr9:43315498-43315499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587641374	chr9:43315502-43315503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200718416	chr9:43315520-43315521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587727464	chr9:43315528-43315529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185462400	chr9:43315529-43315530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2321345	chr9:43315546-43315547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587678829	chr9:43315556-43315557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43314400-43315400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:43314800-43315800	Weak transcription	Fetal Brain Male	brain
3	chr9:43315400-43316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:43315400-43316000	Enhancers	NHEK	skin
5	chr9:43316000-43316200	Enhancers	Fetal Brain Male	brain

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