Variant report

Variant	nsv968597
Chromosome Location	chr9:15522707-15527787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:15527023-15527263	GM12878	blood:	n/a	n/a
2	CEBPB	chr9:15527034-15527402	K562	blood:	n/a	n/a
3	CEBPB	chr9:15527008-15527346	K562	blood:	n/a	n/a
4	CTCF	chr9:15526640-15526790	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr9:15524273-15524316	Spleen_OC	spleen:	n/a	n/a
6	EGR1	chr9:15527543-15527739	GM12878	blood:	n/a	n/a
7	GATA2	chr9:15526974-15527329	K562	blood:	n/a	n/a
8	HEY1	chr9:15527474-15527897	K562	blood:	n/a	chr9:15527720-15527735 chr9:15527709-15527724 chr9:15527697-15527712
9	HEY1	chr9:15527512-15527915	HepG2	liver:	n/a	chr9:15527720-15527735 chr9:15527709-15527724 chr9:15527697-15527712
10	HEY1	chr9:15527439-15527765	K562	blood:	n/a	chr9:15527720-15527735 chr9:15527709-15527724 chr9:15527697-15527712
11	IRF1	chr9:15523299-15523302	K562	blood:	n/a	n/a
12	MAFF	chr9:15524898-15525184	HepG2	liver:	n/a	chr9:15525036-15525054
13	MAFF	chr9:15524907-15525130	K562	blood:	n/a	chr9:15525036-15525054
14	MAFK	chr9:15524886-15525173	HepG2	liver:	n/a	chr9:15525038-15525053
15	MAFK	chr9:15524867-15525206	HepG2	liver:	n/a	chr9:15525038-15525053
16	PAX5	chr9:15527309-15527754	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:15527326-15528011	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:15527723-15527854	A549	lung:	n/a	n/a
19	POLR2A	chr9:15527396-15527757	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr9:15527485-15527865	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:15526902-15527199	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr9:15526977-15527146	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr9:15527519-15527715	A549	lung:	n/a	n/a
24	POLR2A	chr9:15527539-15527763	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr9:15527545-15527675	A549	lung:	n/a	n/a
26	POLR2A	chr9:15527405-15527790	GM12878	blood:	n/a	n/a
27	POLR2A	chr9:15527439-15527827	A549	lung:	n/a	n/a
28	POLR2A	chr9:15527360-15527919	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr9:15527384-15527896	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr9:15527474-15527710	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr9:15527557-15527713	A549	lung:	n/a	n/a
32	POLR2A	chr9:15526974-15527316	GM12878	blood:	n/a	n/a
33	POLR2A	chr9:15527738-15527826	A549	lung:	n/a	n/a
34	POLR2A	chr9:15527765-15527881	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr9:15527537-15527683	HepG2	liver:	n/a	n/a
36	POLR2A	chr9:15527211-15527975	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr9:15527576-15527683	K562	blood:	n/a	n/a
38	POLR2A	chr9:15527330-15528041	GM12892	blood:	n/a	n/a
39	POLR2A	chr9:15527550-15527691	GM12878	blood:	n/a	n/a
40	POU2F2	chr9:15527376-15527803	GM12878	blood:	n/a	chr9:15527731-15527743 chr9:15527728-15527740
41	POU2F2	chr9:15526997-15527345	GM12878	blood:	n/a	n/a
42	SIN3AK20	chr9:15527537-15527678	HepG2	liver:	n/a	n/a
43	TAL1	chr9:15526983-15527344	K562	blood:	n/a	n/a
44	USF1	chr9:15527038-15527366	K562	blood:	n/a	chr9:15527220-15527231
45	USF1	chr9:15527069-15527336	HepG2	liver:	n/a	chr9:15527220-15527231
46	USF2	chr9:15527063-15527376	HepG2	liver:	n/a	chr9:15527220-15527231
47	USF2	chr9:15527114-15527318	Hela-S3	cervix:	n/a	chr9:15527220-15527231
48	WRNIP1	chr9:15525819-15526000	GM12878	blood:	n/a	n/a
49	ZBTB33	chr9:15526882-15527259	K562	blood:	n/a	n/a
50	ZBTB33	chr9:15527306-15527859	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:15512114..15513693-chr9:15523609..15526046,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSIP1-2	chr9:15525782-15526079	NONHSAT130270

Variant related genes	Relation type
FTH1P12	TF binding region
RN7SL98P	TF binding region

Extended variants
information (count: 230 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560923733	chr9:15522711-15522712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531469034	chr9:15522712-15522713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143531389	chr9:15522741-15522742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183090108	chr9:15522753-15522754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188370426	chr9:15522767-15522768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191718814	chr9:15522778-15522779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566003283	chr9:15522779-15522780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536750011	chr9:15522787-15522788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58915725	chr9:15522800-15522801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs532519072	chr9:15522836-15522837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534653683	chr9:15522842-15522843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374855329	chr9:15522854-15522855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148065741	chr9:15522858-15522859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116223666	chr9:15522872-15522873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376749355	chr9:15522886-15522887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577658328	chr9:15522916-15522917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141803342	chr9:15522965-15522966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59355275	chr9:15522981-15522982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs10962055	chr9:15523032-15523033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542723796	chr9:15523036-15523037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370735743	chr9:15523053-15523054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115303759	chr9:15523058-15523059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375094447	chr9:15523059-15523060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549415676	chr9:15523061-15523062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571202195	chr9:15523096-15523097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112960000	chr9:15523107-15523108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59246471	chr9:15523109-15523110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144102833	chr9:15523110-15523111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114284183	chr9:15523121-15523122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547225851	chr9:15523127-15523128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188264891	chr9:15523144-15523145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536312822	chr9:15523182-15523183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555029412	chr9:15523209-15523210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537339267	chr9:15523228-15523229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570190539	chr9:15523256-15523257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150163446	chr9:15523260-15523261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192520203	chr9:15523291-15523292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77152921	chr9:15523303-15523304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57142629	chr9:15523304-15523305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs553256789	chr9:15523310-15523311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574962224	chr9:15523392-15523393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542087566	chr9:15523436-15523437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184784440	chr9:15523451-15523452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190085992	chr9:15523472-15523473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542976660	chr9:15523474-15523475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182099840	chr9:15523494-15523495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553172139	chr9:15523497-15523498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559123432	chr9:15523572-15523573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76097061	chr9:15523585-15523586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547683884	chr9:15523594-15523595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
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
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15521400-15523000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:15522600-15522800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:15523000-15528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:15524400-15525800	Enhancers	HUVEC	blood vessel
5	chr9:15525000-15525400	Enhancers	Brain Angular Gyrus	brain

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