Variant report

Variant	esv3482983
Chromosome Location	chr9:19018455-19022070
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	chr9:19021851-19022515	GM12878	blood:	n/a	n/a
2	BATF	chr9:19021534-19021756	GM12878	blood:	n/a	n/a
3	BATF	chr9:19021958-19022491	GM12878	blood:	n/a	n/a
4	EBF1	chr9:19020781-19020837	GM12878	blood:	n/a	n/a
5	MAFF	chr9:19021599-19021964	HepG2	liver:	n/a	chr9:19021775-19021793
6	MAFF	chr9:19021614-19021961	K562	blood:	n/a	chr9:19021775-19021793
7	MAFK	chr9:19021599-19021967	IMR90	lung:	n/a	chr9:19021776-19021791 chr9:19021751-19021766
8	MAFK	chr9:19021609-19021888	HepG2	liver:	n/a	chr9:19021776-19021791 chr9:19021751-19021766
9	MAFK	chr9:19021607-19021959	K562	blood:	n/a	chr9:19021776-19021791 chr9:19021751-19021766
10	MAFK	chr9:19021745-19021824	Hela-S3	cervix:	n/a	chr9:19021776-19021791 chr9:19021751-19021766
11	MAFK	chr9:19021597-19021967	HepG2	liver:	n/a	chr9:19021776-19021791 chr9:19021751-19021766
12	NFYA	chr9:19021598-19021825	K562	blood:	n/a	n/a
13	NFYB	chr9:19021381-19022100	GM12878	blood:	n/a	n/a
14	NFYB	chr9:19021609-19022103	K562	blood:	n/a	n/a
15	POLR2A	chr9:19021879-19022068	K562	blood:	n/a	n/a
16	POLR2A	chr9:19021869-19022134	GM12878	blood:	n/a	n/a
17	RUNX3	chr9:19021976-19022564	GM12878	blood:	n/a	n/a
18	RUNX3	chr9:19021925-19022509	GM12878	blood:	n/a	n/a
19	SP1	chr9:19021635-19022004	K562	blood:	n/a	n/a
20	SP1	chr9:19021602-19022102	GM12878	blood:	n/a	n/a
21	SP1	chr9:19021654-19022022	GM12878	blood:	n/a	n/a
22	SPI1	chr9:19018147-19018462	HL-60	blood:	n/a	chr9:19018329-19018338 chr9:19018326-19018339
23	SPI1	chr9:19018116-19018651	HL-60	blood:	n/a	chr9:19018329-19018338 chr9:19018326-19018339
24	SPI1	chr9:19021080-19021389	HL-60	blood:	n/a	chr9:19021287-19021294
25	STAT3	chr9:19018396-19018594	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr9:19018433-19018602	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000236680	TF binding region

Extended variants
information (count: 184 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563264387	chr9:19018500-19018501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114031363	chr9:19018509-19018510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189040872	chr9:19018510-19018511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138060064	chr9:19018511-19018512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59273023	chr9:19018521-19018522	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10963907	chr9:19018560-19018561	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs566314041	chr9:19018568-19018569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10963908	chr9:19018577-19018578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536257580	chr9:19018592-19018593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56784233	chr9:19018637-19018638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577774159	chr9:19018642-19018643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191581284	chr9:19018645-19018646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182233048	chr9:19018658-19018659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142548217	chr9:19018738-19018739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576987807	chr9:19018741-19018742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187264474	chr9:19018749-19018750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568429161	chr9:19018758-19018759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553002945	chr9:19018767-19018768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574717128	chr9:19018769-19018770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542142255	chr9:19018773-19018774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191675731	chr9:19018780-19018781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535982808	chr9:19018782-19018783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145971833	chr9:19018805-19018806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545928027	chr9:19018815-19018816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112053826	chr9:19018818-19018819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112789163	chr9:19018837-19018838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141550941	chr9:19018847-19018848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540878515	chr9:19018864-19018865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566129285	chr9:19018865-19018866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530357178	chr9:19018873-19018874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10963909	chr9:19018906-19018907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569732320	chr9:19018951-19018952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537021950	chr9:19018970-19018971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185334996	chr9:19018973-19018974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570885097	chr9:19018976-19018977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530459381	chr9:19019004-19019005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534799734	chr9:19019011-19019012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553179867	chr9:19019012-19019013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142472137	chr9:19019021-19019022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546429670	chr9:19019053-19019054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574524847	chr9:19019056-19019057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150903716	chr9:19019058-19019059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189816828	chr9:19019068-19019069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558142499	chr9:19019117-19019118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575331882	chr9:19019149-19019150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201580568	chr9:19019180-19019181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564033898	chr9:19019186-19019187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369747044	chr9:19019187-19019188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4977486	chr9:19019200-19019201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs559932998	chr9:19019207-19019208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
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
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
Chronic myeloid leukemia	21384125	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19016200-19021800	Weak transcription	Aorta	Aorta
2	chr9:19018000-19018600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr9:19018400-19018600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:19018400-19018800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:19018600-19020000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:19018600-19020800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:19018800-19020400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:19020000-19021600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr9:19020400-19021400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:19020400-19021600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:19020800-19021600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:19021400-19021600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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