Variant report

Variant	nsv968603
Chromosome Location	chr9:21406645-21409787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:21408084-21408246	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELK1	chr9:21407420-21407466	GM12878	blood:	n/a	n/a
3	GATA3	chr9:21408082-21408236	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr9:21407184-21407316	MCF10A-Er-Src	breast:	n/a	n/a
5	WRNIP1	chr9:21409738-21409883	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:21409505-21409555	IMR90	lung:	fetal
2	chr9:21409505-21409555	AG10803	skin:	n/a
3	chr9:21409505-21409555	HAEpiC	amniotic membrane:	n/a
4	chr9:21409505-21409555	HEEpiC	esophagus:	n/a
5	chr9:21409505-21409555	GM12891	blood:	n/a
6	chr9:21409505-21409555	HUVEC	blood vessel:	n/a
7	chr9:21409505-21409555	HCPEpiC	choroid plexus:	n/a
8	chr9:21409505-21409555	HIPEpiC	eye:	n/a
9	chr9:21409505-21409555	CMK	blood:	n/a
10	chr9:21409505-21409555	HPAEpiC	pulmonary alveolar:	n/a
11	chr9:21409505-21409555	ProgFib	skin:	n/a
12	chr9:21409505-21409555	HEK293	kidney:	embryo
13	chr9:21409505-21409555	K562	blood:	n/a
14	chr9:21409505-21409555	HMEC	breast:	n/a
15	chr9:21409505-21409555	HNPCEpiC	eye:	n/a
16	chr9:21409505-21409555	NB4	blood:	n/a
17	chr9:21409505-21409555	SKMC	muscle:	n/a
18	chr9:21409505-21409555	Caco-2	colon:	n/a
19	chr9:21409505-21409555	SK-N-MC	brain:	n/a
20	chr9:21409505-21409555	ovcar-3	ovarian:	n/a
21	chr9:21409505-21409555	SK-N-SH	brain:	n/a
22	chr9:21409505-21409555	AoSMC	blood vessel:	n/a
23	chr9:21409505-21409555	HCT-116	colon:	n/a
24	chr9:21409505-21409555	HRE	kidney:	n/a
25	chr9:21409505-21409555	PANC-1	pancreas:	n/a
26	chr9:21409505-21409555	NT2-D1	testis:	n/a
27	chr9:21409505-21409555	HCM	heart:	n/a
28	chr9:21409505-21409555	AG04449	skin:	fetal
29	chr9:21409505-21409555	GM12878	blood:	n/a
30	chr9:21409505-21409555	H1-hESC	embryonic stem cell:	embryo
31	chr9:21409505-21409555	Hela-S3	cervix:	n/a
32	chr9:21409505-21409555	AG09309	skin:	n/a
33	chr9:21409505-21409555	HRPEpiC	eye:	n/a
34	chr9:21409505-21409555	HCF	heart:	n/a
35	chr9:21409505-21409555	HRCEpiC	kidney:	n/a
36	chr9:21409505-21409555	GM19239	blood:	n/a
37	chr9:21409505-21409555	BE2_C	brain:	n/a
38	chr9:21409505-21409555	LNCaP	prostate:	n/a
39	chr9:21409505-21409555	NHDF-neo	bronchial:	n/a
40	chr9:21409505-21409555	BJ	skin:	n/a
41	chr9:21409505-21409555	PFSK-1	brain:	n/a
42	chr9:21409505-21409555	GM06990	blood:	n/a
43	chr9:21409505-21409555	PrEC	prostate:	n/a
44	chr9:21409505-21409555	SK-N-SH_RA	brain:	n/a
45	chr9:21409505-21409555	U87	brain:	n/a
46	chr9:21409505-21409555	NH-A	brain:	n/a
47	chr9:21409505-21409555	HepG2	liver:	n/a
48	chr9:21409505-21409555	T-47D	breast:	n/a
49	chr9:21409505-21409555	GM12892	blood:	n/a
50	chr9:21409505-21409555	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
IFNA8	TF binding region
IFNA8	CpG island

Extended variants
information (count: 47 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76437655	chr9:21406676-21406677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74853400	chr9:21406681-21406682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578044732	chr9:21406728-21406729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75815701	chr9:21406759-21406760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112782636	chr9:21406781-21406782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188621180	chr9:21406789-21406790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117451921	chr9:21406847-21406848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192959378	chr9:21406979-21406980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183923233	chr9:21407055-21407056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368443550	chr9:21407073-21407074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564057390	chr9:21407090-21407091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532718530	chr9:21407092-21407093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546571631	chr9:21407238-21407239	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs1330322	chr9:21407250-21407251	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs188609896	chr9:21407251-21407252	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548830694	chr9:21407260-21407261	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs550904246	chr9:21407315-21407316	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs4142400	chr9:21407319-21407320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559282364	chr9:21407366-21407367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1330321	chr9:21407375-21407376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs376304269	chr9:21407406-21407407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565695384	chr9:21407451-21407452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538454881	chr9:21407471-21407472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72701358	chr9:21407510-21407511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571975401	chr9:21407515-21407516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534273205	chr9:21407519-21407520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183636706	chr9:21407524-21407525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28383784	chr9:21407565-21407566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34345553	chr9:21407595-21407596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567624282	chr9:21408139-21408140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138535937	chr9:21408172-21408173	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556199566	chr9:21408177-21408178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs367668790	chr9:21408182-21408183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs141608009	chr9:21408191-21408192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs36016612	chr9:21408199-21408200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs115966176	chr9:21408200-21408201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs190326377	chr9:21408232-21408233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs191729261	chr9:21409607-21409608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147319848	chr9:21409631-21409632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552283876	chr9:21409638-21409639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200979516	chr9:21409674-21409675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537364943	chr9:21409708-21409709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559740199	chr9:21409758-21409759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371957734	chr9:21409760-21409761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200547373	chr9:21409761-21409762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376353525	chr9:21409767-21409768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567440947	chr9:21409771-21409772	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Pancreatic cancer	21811587	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21404400-21407600	Weak transcription	Aorta	Aorta
2	chr9:21409600-21409800	Enhancers	Primary monocytes fromperipheralblood	blood

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