Variant report

Variant	nsv972300
Chromosome Location	chr9:21367212-21369885
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	chr9:21367253-21367565	GM12878	blood:	n/a	chr9:21367396-21367407
2	BATF	chr9:21367292-21367542	GM12878	blood:	n/a	chr9:21367396-21367407
3	BCL11A	chr9:21367236-21367595	GM12878	blood:	n/a	chr9:21367349-21367358
4	IRF4	chr9:21367228-21367611	GM12878	blood:	n/a	n/a
5	PAX5	chr9:21367219-21367699	GM12878	blood:	n/a	chr9:21367349-21367358 chr9:21367373-21367392
6	PAX5	chr9:21367280-21367459	GM12878	blood:	n/a	chr9:21367349-21367358 chr9:21367373-21367392
7	PAX5	chr9:21367275-21367591	GM12878	blood:	n/a	chr9:21367349-21367358 chr9:21367373-21367392
8	PAX5	chr9:21367244-21367539	GM12878	blood:	n/a	chr9:21367349-21367358 chr9:21367373-21367392
9	PAX5	chr9:21367231-21367478	GM12891	blood:	n/a	chr9:21367349-21367358 chr9:21367373-21367392
10	PAX5	chr9:21367249-21367442	GM12892	blood:	n/a	chr9:21367349-21367358 chr9:21367373-21367392
11	PAX5	chr9:21367278-21367462	GM12892	blood:	n/a	chr9:21367349-21367358 chr9:21367373-21367392
12	POLR2A	chr9:21367616-21367683	ProgFib	skin:	n/a	n/a
13	POLR2A	chr9:21367399-21367473	ProgFib	skin:	n/a	n/a
14	POLR2A	chr9:21367433-21367576	GM12878	blood:	n/a	n/a
15	SPI1	chr9:21367215-21367537	GM12878	blood:	n/a	n/a
16	SPI1	chr9:21367166-21367562	GM12891	blood:	n/a	n/a
17	SPI1	chr9:21367063-21367803	GM12878	blood:	n/a	n/a
18	SPI1	chr9:21367199-21367502	GM12878	blood:	n/a	n/a
19	TCF3	chr9:21367214-21367531	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:21368292-21368342	SAEC	small airway:	n/a
2	chr9:21368292-21368342	HPAEpiC	pulmonary alveolar:	n/a
3	chr9:21368292-21368342	SK-N-SH_RA	brain:	n/a
4	chr9:21368292-21368342	AG04449	skin:	fetal
5	chr9:21368292-21368342	HNPCEpiC	eye:	n/a
6	chr9:21368292-21368342	AoSMC	blood vessel:	n/a
7	chr9:21368292-21368342	K562	blood:	n/a
8	chr9:21368292-21368342	HCPEpiC	choroid plexus:	n/a
9	chr9:21368292-21368342	U87	brain:	n/a
10	chr9:21368292-21368342	LNCaP	prostate:	n/a
11	chr9:21368292-21368342	HMEC	breast:	n/a
12	chr9:21368292-21368342	T-47D	breast:	n/a
13	chr9:21368292-21368342	AG10803	skin:	n/a
14	chr9:21368292-21368342	HCM	heart:	n/a
15	chr9:21368292-21368342	A549	lung:	n/a
16	chr9:21368292-21368342	Caco-2	colon:	n/a
17	chr9:21368292-21368342	ECC-1	luminal epithelium:	n/a
18	chr9:21368292-21368342	NT2-D1	testis:	n/a
19	chr9:21368292-21368342	GM12891	blood:	n/a
20	chr9:21368292-21368342	PrEC	prostate:	n/a
21	chr9:21368292-21368342	NH-A	brain:	n/a
22	chr9:21368292-21368342	HEK293	kidney:	embryo
23	chr9:21368292-21368342	CMK	blood:	n/a
24	chr9:21368292-21368342	IMR90	lung:	fetal
25	chr9:21368292-21368342	HCT-116	colon:	n/a
26	chr9:21368292-21368342	AG04450	lung:	fetal
27	chr9:21368292-21368342	GM12878	blood:	n/a
28	chr9:21368292-21368342	NHDF-neo	bronchial:	n/a
29	chr9:21368292-21368342	SK-N-MC	brain:	n/a
30	chr9:21368292-21368342	HRPEpiC	eye:	n/a
31	chr9:21368292-21368342	HRCEpiC	kidney:	n/a
32	chr9:21368292-21368342	HEEpiC	esophagus:	n/a
33	chr9:21368292-21368342	MCF10A-Er-Src	breast:	n/a
34	chr9:21368292-21368342	BJ	skin:	n/a
35	chr9:21368292-21368342	SK-N-SH	brain:	n/a
36	chr9:21368292-21368342	RPTEC	kidney:	n/a
37	chr9:21368292-21368342	AG09319	gingival:	n/a
38	chr9:21368292-21368342	H1-hESC	embryonic stem cell:	embryo
39	chr9:21368292-21368342	PFSK-1	brain:	n/a
40	chr9:21368292-21368342	ProgFib	skin:	n/a
41	chr9:21368292-21368342	BE2_C	brain:	n/a
42	chr9:21368292-21368342	SKMC	muscle:	n/a
43	chr9:21368292-21368342	HRE	kidney:	n/a
44	chr9:21368292-21368342	Jurkat	blood:	n/a
45	chr9:21368292-21368342	MCF-7	breast:	n/a
46	chr9:21368292-21368342	ovcar-3	ovarian:	n/a
47	chr9:21368292-21368342	GM12892	blood:	n/a
48	chr9:21368292-21368342	NB4	blood:	n/a
49	chr9:21368292-21368342	AG09309	skin:	n/a
50	chr9:21368292-21368342	HUVEC	blood vessel:	n/a

Variant related genes	Relation type
IFNA13	TF binding region
IFNA13	CpG island

Extended variants
information (count: 74 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566108036	chr9:21367259-21367260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548209274	chr9:21367263-21367264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12003605	chr9:21367283-21367284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530840086	chr9:21367294-21367295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550571632	chr9:21367305-21367306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570653075	chr9:21367314-21367315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2480926	chr9:21367351-21367352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs28383781	chr9:21367352-21367353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2773830	chr9:21367371-21367372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1755634	chr9:21367398-21367399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566622587	chr9:21367401-21367402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535510595	chr9:21367403-21367404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200357329	chr9:21367433-21367434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111943210	chr9:21367434-21367435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567012200	chr9:21367436-21367437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373918648	chr9:21367472-21367473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560676746	chr9:21367478-21367479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555351965	chr9:21367480-21367481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145283706	chr9:21367519-21367520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371197761	chr9:21367530-21367531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575201222	chr9:21367554-21367555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148767103	chr9:21367564-21367565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538169450	chr9:21367571-21367572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537494699	chr9:21367586-21367587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142420162	chr9:21367593-21367594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147936545	chr9:21367597-21367598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376589976	chr9:21367605-21367606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535362916	chr9:21367612-21367613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578151597	chr9:21367613-21367614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540463814	chr9:21367652-21367653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202198032	chr9:21367770-21367771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200302506	chr9:21367783-21367784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572982034	chr9:21367813-21367814	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201778662	chr9:21367821-21367822	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541909432	chr9:21367822-21367823	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372989286	chr9:21367827-21367828	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199648677	chr9:21367846-21367847	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200533779	chr9:21367851-21367852	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201035450	chr9:21367865-21367866	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370925363	chr9:21367875-21367876	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141823941	chr9:21367882-21367883	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530494185	chr9:21367900-21367901	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375102230	chr9:21367911-21367912	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564214058	chr9:21367928-21367929	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533199982	chr9:21367929-21367930	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147116149	chr9:21367951-21367952	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199901686	chr9:21367978-21367979	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147549496	chr9:21367983-21367984	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146195386	chr9:21368008-21368009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189163871	chr9:21368009-21368010	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
Chronic myeloid leukemia	21384125	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Epilepsy	20502679	CNVD
Barrett''s syndrome	19417022	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21367200-21367600	Weak transcription	GM12878-XiMat	blood
2	chr9:21367600-21368200	Enhancers	GM12878-XiMat	blood
3	chr9:21367800-21368000	Bivalent Enhancer	Primary B cells from cord blood	blood

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