Variant report

Variant	nsv982331
Chromosome Location	chr9:103885456-103890947
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	chr9:103888073-103888249	GM12878	blood:	n/a	n/a
2	BATF	chr9:103888088-103888311	GM12878	blood:	n/a	n/a
3	CTCF	chr9:103888955-103889005	GM13977	blood:	n/a	n/a
4	CTCF	chr9:103888920-103889070	GM06990	blood:	n/a	n/a
5	CTCF	chr9:103888935-103889054	GM12878	blood:	n/a	n/a
6	CTCF	chr9:103888801-103889148	GM12878	blood:	n/a	n/a
7	FOXA1	chr9:103888223-103888753	HepG2	liver:	n/a	n/a
8	FOXA1	chr9:103890850-103891269	HepG2	liver:	n/a	n/a
9	FOXA1	chr9:103888304-103888635	HepG2	liver:	n/a	n/a
10	FOXA1	chr9:103890886-103891225	HepG2	liver:	n/a	n/a
11	FOXA1	chr9:103890901-103891176	HepG2	liver:	n/a	n/a
12	FOXA1	chr9:103888292-103888619	HepG2	liver:	n/a	n/a
13	HNF4G	chr9:103890938-103891208	HepG2	liver:	n/a	chr9:103891127-103891142 chr9:103891127-103891142
14	IRF4	chr9:103888931-103889155	GM12878	blood:	n/a	n/a
15	KAP1	chr9:103889452-103890341	HEK293	kidney:	n/a	n/a
16	KAP1	chr9:103889409-103890229	U2OS	brain:	n/a	n/a
17	KAP1	chr9:103885730-103886388	HEK293	kidney:	n/a	n/a
18	KAP1	chr9:103885781-103886221	U2OS	brain:	n/a	n/a
19	POLR2A	chr9:103886024-103886030	ProgFib	skin:	n/a	n/a
20	POU2F2	chr9:103888063-103888391	GM12878	blood:	n/a	chr9:103888284-103888296 chr9:103888285-103888295 chr9:103888285-103888294 chr9:103888285-103888295
21	RCOR1	chr9:103888939-103889003	GM12878	blood:	n/a	n/a
22	RFX5	chr9:103888862-103889025	GM12878	blood:	n/a	n/a
23	SMC3	chr9:103888840-103889141	GM12878	blood:	n/a	n/a
24	SPI1	chr9:103888828-103889368	GM12878	blood:	n/a	n/a
25	SPI1	chr9:103888804-103889272	GM12891	blood:	n/a	n/a
26	SPI1	chr9:103888939-103889241	GM12878	blood:	n/a	n/a
27	SPI1	chr9:103888950-103889185	GM12878	blood:	n/a	n/a
28	SPI1	chr9:103888927-103889221	GM12891	blood:	n/a	n/a
29	TCF7L2	chr9:103889304-103890309	HEK293	kidney:	n/a	n/a
30	TCF7L2	chr9:103885753-103886409	HEK293	kidney:	n/a	n/a
31	ZNF143	chr9:103889567-103889810	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAAT-2	chr9:103887718-103888203	NONHSAT133722

Variant related genes	Relation type
ENSG00000148123	TF binding region
ENSG00000238143	TF binding region

Extended variants
information (count: 229 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9792593	chr9:103885457-103885458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192452889	chr9:103885470-103885471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553542324	chr9:103885503-103885504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575367986	chr9:103885517-103885518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386736826	chr9:103885518-103885519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369676058	chr9:103885530-103885531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373159229	chr9:103885543-103885544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60955857	chr9:103885549-103885550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4998243	chr9:103885584-103885585	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs540764412	chr9:103885635-103885636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555920791	chr9:103885685-103885686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575958556	chr9:103885692-103885693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545736419	chr9:103885730-103885731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565530447	chr9:103885746-103885747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527896045	chr9:103885752-103885753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184551354	chr9:103885766-103885767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138896104	chr9:103885767-103885768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4990718	chr9:103885827-103885828	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550217567	chr9:103885866-103885867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537265111	chr9:103885877-103885878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149414531	chr9:103885899-103885900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555888948	chr9:103885929-103885930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188162927	chr9:103885940-103885941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571249030	chr9:103885957-103885958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533833114	chr9:103885965-103885966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191164740	chr9:103885969-103885970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567438572	chr9:103885979-103885980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184917560	chr9:103886010-103886011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574254336	chr9:103886015-103886016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189764904	chr9:103886043-103886044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138492610	chr9:103886100-103886101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544978562	chr9:103886111-103886112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114532245	chr9:103886135-103886136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181901489	chr9:103886190-103886191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59191507	chr9:103886220-103886221	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561341670	chr9:103886270-103886271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113872629	chr9:103886273-103886274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543557761	chr9:103886286-103886287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553133715	chr9:103886319-103886320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563763395	chr9:103886320-103886321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532462001	chr9:103886328-103886329	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148630834	chr9:103886330-103886331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565715461	chr9:103886431-103886432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527614725	chr9:103886479-103886480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186933055	chr9:103886480-103886481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117828506	chr9:103886499-103886500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142116436	chr9:103886527-103886528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150761327	chr9:103886545-103886546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139143353	chr9:103886546-103886547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569806714	chr9:103886550-103886551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103877600-103901600	Weak transcription	Fetal Brain Male	brain
2	chr9:103877800-103887600	Weak transcription	Brain Substantia Nigra	brain
3	chr9:103882000-103887800	Weak transcription	Brain Hippocampus Middle	brain
4	chr9:103885000-103887000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:103887600-103888400	Enhancers	HepG2	liver
6	chr9:103887600-103889400	Enhancers	Brain Substantia Nigra	brain
7	chr9:103887800-103888600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr9:103887800-103888800	Enhancers	Brain Hippocampus Middle	brain
9	chr9:103887800-103889000	Enhancers	GM12878-XiMat	blood
10	chr9:103888000-103888800	Enhancers	Brain Cingulate Gyrus	brain
11	chr9:103888400-103890000	Weak transcription	HepG2	liver
12	chr9:103888600-103889000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr9:103888600-103891000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:103889400-103889800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:103890000-103891800	Enhancers	HepG2	liver
16	chr9:103890800-103891600	Enhancers	Liver	Liver

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