Variant report

Variant	nsv968602
Chromosome Location	chr9:21349789-21352300
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	CTCF	chr9:21350780-21350930	GM12875	blood:	n/a	n/a
2	CTCF	chr9:21350796-21350830	ProgFib	skin:	n/a	n/a
3	CTCF	chr9:21350760-21350910	HEK293	kidney:	n/a	n/a
4	POLR2A	chr9:21350754-21350878	A549	lung:	n/a	n/a
5	WRNIP1	chr9:21350475-21350619	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:21333378..21336066-chr9:21351386..21353061,2	MCF-7	breast:

Variant related genes	Relation type
IFNA6	TF binding region
ENSG00000198642	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202179791	chr9:21350423-21350424	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs560453521	chr9:21350433-21350434	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs560876373	chr9:21350435-21350436	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs549218066	chr9:21350441-21350442	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs141102746	chr9:21350476-21350477	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs61736258	chr9:21350487-21350488	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370092473	chr9:21350488-21350489	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs372401225	chr9:21350498-21350499	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs137921767	chr9:21350502-21350503	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs531897763	chr9:21350541-21350542	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs142796435	chr9:21350577-21350578	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs570503239	chr9:21350589-21350590	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs147415542	chr9:21350595-21350596	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs375649668	chr9:21350602-21350603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76096785	chr9:21350603-21350604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186416653	chr9:21350604-21350605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2988573	chr9:21350620-21350621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369385528	chr9:21350625-21350626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189717919	chr9:21350627-21350628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112773436	chr9:21350634-21350635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141284622	chr9:21350640-21350641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370196139	chr9:21350700-21350701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61736257	chr9:21350701-21350702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557998847	chr9:21350707-21350708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201824804	chr9:21350709-21350710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200999463	chr9:21350710-21350711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372927228	chr9:21350717-21350718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560117253	chr9:21350718-21350719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573657270	chr9:21350725-21350726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61736255	chr9:21350731-21350732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375617147	chr9:21350735-21350736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144160887	chr9:21350737-21350738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61736254	chr9:21350741-21350742	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190705153	chr9:21350748-21350749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114283047	chr9:21350803-21350804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150008995	chr9:21350822-21350823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199909475	chr9:21350886-21350887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368954850	chr9:21350893-21350894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138085325	chr9:21350904-21350905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10123853	chr9:21350910-21350911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181850780	chr9:21350937-21350938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187414422	chr9:21350942-21350943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549030926	chr9:21350952-21350953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569111624	chr9:21350991-21350992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117181746	chr9:21351015-21351016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191750559	chr9:21351028-21351029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571062303	chr9:21351113-21351114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377529017	chr9:21351162-21351163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149536695	chr9:21351168-21351169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370554168	chr9:21351179-21351180	Weak transcription	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	chr9:21350400-21350600	Bivalent Enhancer	Right Atrium	heart
2	chr9:21350600-21351000	Enhancers	GM12878-XiMat	blood
3	chr9:21351000-21353600	Weak transcription	GM12878-XiMat	blood

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