Variant report

Variant	nsv969591
Chromosome Location	chr9:44064300-44070279
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	chr9:44065378-44065708	GM12878	blood:	n/a	n/a
2	BATF	chr9:44065395-44065684	GM12878	blood:	n/a	n/a
3	CEBPD	chr9:44065597-44065994	K562	blood:	n/a	n/a
4	EP300	chr9:44068552-44068791	GM12878	blood:	n/a	n/a
5	FOSL2	chr9:44065696-44066071	HepG2	liver:	n/a	n/a
6	FOSL2	chr9:44065721-44066055	HepG2	liver:	n/a	n/a
7	FOXA1	chr9:44068413-44068889	HepG2	liver:	n/a	chr9:44068780-44068792
8	GATA2	chr9:44070239-44070893	K562	blood:	n/a	chr9:44070292-44070299 chr9:44070288-44070304 chr9:44070292-44070299 chr9:44070285-44070306 chr9:44070292-44070299
9	GATA2	chr9:44065418-44066111	K562	blood:	n/a	n/a
10	GATA2	chr9:44068461-44068795	K562	blood:	n/a	chr9:44068607-44068618
11	GATA2	chr9:44066829-44067076	K562	blood:	n/a	n/a
12	HEY1	chr9:44065778-44066092	K562	blood:	n/a	n/a
13	HEY1	chr9:44065636-44066095	HepG2	liver:	n/a	n/a
14	IRF4	chr9:44064074-44064431	GM12878	blood:	n/a	n/a
15	JUND	chr9:44065718-44066047	HepG2	liver:	n/a	n/a
16	JUND	chr9:44065802-44065943	HepG2	liver:	n/a	n/a
17	JUND	chr9:44068149-44068378	HepG2	liver:	n/a	n/a
18	MAFK	chr9:44064377-44064540	HepG2	liver:	n/a	chr9:44064431-44064448
19	PAX5	chr9:44065710-44065964	GM12878	blood:	n/a	n/a
20	PAX5	chr9:44068124-44068299	GM12878	blood:	n/a	n/a
21	PAX5	chr9:44064073-44064363	GM12878	blood:	n/a	n/a
22	POLR2A	chr9:44065765-44066055	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr9:44065794-44066021	HepG2	liver:	n/a	n/a
24	POU2F2	chr9:44066016-44066434	GM12878	blood:	n/a	n/a
25	POU2F2	chr9:44068043-44068387	GM12878	blood:	n/a	chr9:44068359-44068371
26	RXRA	chr9:44063841-44064436	HepG2	liver:	n/a	n/a
27	RXRA	chr9:44068118-44068312	HepG2	liver:	n/a	n/a
28	RXRA	chr9:44065756-44065944	HepG2	liver:	n/a	n/a
29	RXRA	chr9:44065645-44066156	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr9:44065770-44065941	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr9:44069016-44069185	HepG2	liver:	n/a	n/a
32	SIX5	chr9:44065947-44066270	K562	blood:	n/a	n/a
33	SP1	chr9:44066102-44066368	GM12878	blood:	n/a	n/a
34	SP1	chr9:44068531-44068855	GM12878	blood:	n/a	chr9:44068617-44068624
35	SP1	chr9:44065675-44066324	HepG2	liver:	n/a	n/a
36	SP1	chr9:44065256-44065731	GM12878	blood:	n/a	n/a
37	SPI1	chr9:44065716-44066029	K562	blood:	n/a	n/a
38	SPI1	chr9:44064125-44064330	K562	blood:	n/a	n/a
39	SPI1	chr9:44065305-44065443	K562	blood:	n/a	n/a
40	SPI1	chr9:44064130-44064383	GM12878	blood:	n/a	n/a
41	STAT5A	chr9:44065542-44065980	K562	blood:	n/a	n/a
42	TCF12	chr9:44065987-44066213	GM12878	blood:	n/a	n/a
43	TCF12	chr9:44066396-44066604	HepG2	liver:	n/a	n/a
44	USF1	chr9:44065821-44065998	HepG2	liver:	n/a	n/a
45	USF1	chr9:44065820-44065947	HepG2	liver:	n/a	n/a
46	USF1	chr9:44069515-44069619	HepG2	liver:	n/a	n/a
47	ZBTB33	chr9:44065721-44066024	GM12878	blood:	n/a	n/a
48	ZBTB33	chr9:44068423-44068772	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000170165	TF binding region

Extended variants
information (count: 457 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559752825	chr9:44064317-44064318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368012750	chr9:44064331-44064332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548568672	chr9:44064370-44064371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570388286	chr9:44064387-44064388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62536313	chr9:44064451-44064452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140279206	chr9:44064487-44064488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62536314	chr9:44064539-44064540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535171769	chr9:44064571-44064572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553592467	chr9:44064595-44064596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553254844	chr9:44064604-44064605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189234215	chr9:44064636-44064637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535863735	chr9:44064655-44064656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541797293	chr9:44064666-44064667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554122530	chr9:44064682-44064683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575965727	chr9:44064684-44064685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145374793	chr9:44064709-44064710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146484090	chr9:44064710-44064711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62536315	chr9:44064717-44064718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs185473183	chr9:44064720-44064721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564252468	chr9:44064731-44064732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530193387	chr9:44064753-44064754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533303282	chr9:44064770-44064771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71512050	chr9:44064856-44064857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563659959	chr9:44064874-44064875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114045364	chr9:44064892-44064893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552596811	chr9:44064943-44064944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374867312	chr9:44064979-44064980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571083593	chr9:44065018-44065019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369354978	chr9:44065048-44065049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62536316	chr9:44065095-44065096	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs547140110	chr9:44065113-44065114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565465541	chr9:44065122-44065123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190085486	chr9:44065141-44065142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547822408	chr9:44065144-44065145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569305596	chr9:44065162-44065163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375646897	chr9:44065171-44065172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183017600	chr9:44065178-44065179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558587233	chr9:44065211-44065212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577033075	chr9:44065232-44065233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202029178	chr9:44065252-44065253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534538717	chr9:44065306-44065307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553185461	chr9:44065350-44065351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373345914	chr9:44065372-44065373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112611277	chr9:44065383-44065384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377499191	chr9:44065450-44065451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542336004	chr9:44065473-44065474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186694088	chr9:44065477-44065478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575716710	chr9:44065494-44065495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546142842	chr9:44065498-44065499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79083017	chr9:44065499-44065500	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:67)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	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
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44057200-44070600	Weak transcription	Liver	Liver
2	chr9:44070200-44070600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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