Variant report

Variant	nsv973379
Chromosome Location	chr9:84677143-84682249
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	CEBPB	chr9:84681325-84681716	HepG2	liver:	n/a	chr9:84681361-84681372
2	CEBPB	chr9:84681328-84681719	IMR90	lung:	n/a	chr9:84681361-84681372
3	CEBPB	chr9:84681295-84681508	A549	lung:	n/a	chr9:84681361-84681372
4	GATA3	chr9:84680676-84681146	MCF-7	breast:	n/a	n/a
5	POLR2A	chr9:84678433-84678623	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF7L2	chr9:84680711-84680977	MCF-7	breast:	n/a	chr9:84680829-84680843

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75B-2	chr9:84678409-84678597	NONHSAT132701
2	lnc-FAM75B-2	chr9:84677151-84677208	NONHSAT132701

Variant related genes	Relation type
SPATA31B1	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534897163	chr9:84677191-84677192	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553015167	chr9:84677220-84677221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571386900	chr9:84677257-84677258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538466483	chr9:84677284-84677285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183254736	chr9:84677298-84677299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547533486	chr9:84677324-84677325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542716614	chr9:84678412-84678413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs111234141	chr9:84678423-84678424	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs528048241	chr9:84678461-84678462	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs546268483	chr9:84678486-84678487	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs564939641	chr9:84678487-84678488	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs532280757	chr9:84678500-84678501	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs375206642	chr9:84678501-84678502	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs369851928	chr9:84678513-84678514	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs536044480	chr9:84678560-84678561	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs549028076	chr9:84678570-84678571	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs567646542	chr9:84678592-84678593	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs535169083	chr9:84678602-84678603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs553072412	chr9:84678605-84678606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs577997190	chr9:84678607-84678608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539304869	chr9:84678608-84678609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557708125	chr9:84678609-84678610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs560820007	chr9:84680753-84680754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532628590	chr9:84680766-84680767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201912739	chr9:84680767-84680768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377014619	chr9:84680788-84680789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs551127746	chr9:84680842-84680843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374865038	chr9:84680882-84680883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs142479165	chr9:84680894-84680895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs189301557	chr9:84680903-84680904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs73463420	chr9:84680929-84680930	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12342604	chr9:84681023-84681024	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs34366792	chr9:84681026-84681027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs34351419	chr9:84681028-84681029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114912418	chr9:84681084-84681085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs537515174	chr9:84681127-84681128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs182348975	chr9:84681303-84681304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs371251128	chr9:84681313-84681314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs75032451	chr9:84681376-84681377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529827463	chr9:84681399-84681400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79684114	chr9:84681441-84681442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530178251	chr9:84681450-84681451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548563455	chr9:84681478-84681479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs536369423	chr9:84681495-84681496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs560315447	chr9:84681524-84681525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs77503274	chr9:84681613-84681614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs140327751	chr9:84681623-84681624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs145431240	chr9:84681630-84681631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84676800-84677200	Enhancers	Fetal Muscle Trunk	muscle
2	chr9:84677000-84677400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:84677000-84677400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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