Variant report

Variant	nsv982629
Chromosome Location	chr9:118506958-118515548
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	MAFK	chr9:118507236-118507365	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:118509227-118509315	K562	blood:	n/a	n/a
3	POLR2A	chr9:118510145-118510255	MCF10A-Er-Src	breast:	n/a	n/a
4	REST	chr9:118507778-118508119	PFSK-1	brain:	n/a	chr9:118507935-118507944 chr9:118507930-118507950 chr9:118507930-118507950
5	STAT3	chr9:118510427-118510726	MCF10A-Er-Src	breast:	n/a	chr9:118510463-118510471

No.	Distal block	Cell Line	Cell type
1	chr9:118509972..118511788-chr9:118525893..118528405,2	K562	blood:
2	chr9:118512692..118514781-chr9:118515369..118517078,2	K562	blood:
3	chr9:118512692..118514781-chr9:118515369..118517078,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAPPA-3	chr9:118509907-118510005	XLOC_007533

Variant related genes	Relation type
ENSG00000228714	TF binding region
C16orf70	miRNA target sites

Extended variants
information (count: 297 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149283594	chr9:118506964-118506965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10817832	chr9:118506984-118506985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs982463	chr9:118506991-118506992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534922970	chr9:118507057-118507058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578261403	chr9:118507081-118507082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111895538	chr9:118507125-118507126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551227708	chr9:118507140-118507141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571439384	chr9:118507141-118507142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146178923	chr9:118507208-118507209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137887235	chr9:118507225-118507226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182927478	chr9:118507246-118507247	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs982464	chr9:118507255-118507256	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544551452	chr9:118507270-118507271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374981123	chr9:118507388-118507389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555803702	chr9:118507434-118507435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13300130	chr9:118507455-118507456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572432503	chr9:118507458-118507459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541762242	chr9:118507510-118507511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564596234	chr9:118507530-118507531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578181405	chr9:118507536-118507537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543690222	chr9:118507550-118507551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138598760	chr9:118507556-118507557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563902342	chr9:118507572-118507573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528981670	chr9:118507575-118507576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534368381	chr9:118507590-118507591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76667131	chr9:118507594-118507595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558938474	chr9:118507599-118507600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142197705	chr9:118507708-118507709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188031001	chr9:118507773-118507774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571483117	chr9:118507789-118507790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530822532	chr9:118507879-118507880	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs550551225	chr9:118507947-118507948	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs567409692	chr9:118507958-118507959	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs146399363	chr9:118508008-118508009	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555865373	chr9:118508037-118508038	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs566101702	chr9:118508133-118508134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192974503	chr9:118508188-118508189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558118730	chr9:118508201-118508202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559307153	chr9:118508208-118508209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35306289	chr9:118508265-118508266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10982903	chr9:118508283-118508284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs544046007	chr9:118508328-118508329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58325354	chr9:118508329-118508330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557191205	chr9:118508346-118508347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542334640	chr9:118508356-118508357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560557401	chr9:118508389-118508390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559048238	chr9:118508422-118508423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528156166	chr9:118508433-118508434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184671177	chr9:118508603-118508604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544643283	chr9:118508613-118508614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118502200-118509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:118508200-118508800	Enhancers	NH-A	brain
3	chr9:118508200-118509400	Weak transcription	HMEC	breast
4	chr9:118508600-118509400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:118508600-118509600	Enhancers	HSMM	muscle
6	chr9:118508800-118509600	Weak transcription	NH-A	brain
7	chr9:118509400-118509800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:118509400-118509800	Enhancers	HMEC	breast
9	chr9:118509400-118509800	Enhancers	NHEK	skin
10	chr9:118509400-118510000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:118509400-118510400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:118509600-118509800	Enhancers	NH-A	brain
13	chr9:118510400-118516400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:118514600-118515000	Enhancers	A549	lung
15	chr9:118515000-118518000	Weak transcription	A549	lung
16	chr9:118515400-118515600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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