Variant report

Variant	esv21023
Chromosome Location	chr9:99846075-99849809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:99847027-99847099	K562	blood:	n/a	n/a
2	ATF1	chr9:99846704-99847273	K562	blood:	n/a	n/a
3	CEBPD	chr9:99846796-99847242	K562	blood:	n/a	n/a
4	CTCF	chr9:99847078-99847276	K562	blood:	n/a	n/a
5	CTCF	chr9:99846880-99847030	GM12866	blood:	n/a	n/a
6	CTCF	chr9:99847109-99847227	K562	blood:	n/a	n/a
7	CTCF	chr9:99847124-99847173	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr9:99846665-99846746	GM10248	blood:	n/a	n/a
9	EP300	chr9:99846741-99847271	K562	blood:	n/a	n/a
10	GATA1	chr9:99846616-99847276	K562	blood:	n/a	n/a
11	GATA2	chr9:99846837-99847234	K562	blood:	n/a	n/a
12	IRF1	chr9:99846699-99847142	K562	blood:	n/a	n/a
13	JUND	chr9:99846852-99847118	K562	blood:	n/a	n/a
14	MYC	chr9:99846934-99847186	K562	blood:	n/a	n/a
15	NFYB	chr9:99846812-99847013	K562	blood:	n/a	n/a
16	PML	chr9:99846728-99847194	K562	blood:	n/a	n/a
17	POLR2A	chr9:99846272-99846384	GM12878	blood:	n/a	n/a
18	RCOR1	chr9:99846801-99847212	K562	blood:	n/a	n/a
19	RCOR1	chr9:99846945-99847138	K562	blood:	n/a	n/a
20	TAL1	chr9:99846829-99847230	K562	blood:	n/a	n/a
21	TBL1XR1	chr9:99846919-99847186	K562	blood:	n/a	n/a
22	TBP	chr9:99846806-99846927	K562	blood:	n/a	n/a
23	TEAD4	chr9:99846680-99847366	K562	blood:	n/a	n/a
24	ZMIZ1	chr9:99847108-99847138	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000228376	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111936545	chr9:99846140-99846141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182243553	chr9:99846156-99846157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149156802	chr9:99846242-99846243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143292780	chr9:99846257-99846258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537925117	chr9:99846302-99846303	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556014918	chr9:99846324-99846325	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs77432635	chr9:99846348-99846349	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577539111	chr9:99846453-99846454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544694828	chr9:99846458-99846459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558389024	chr9:99846509-99846510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186888923	chr9:99846536-99846537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540570802	chr9:99846543-99846544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561935866	chr9:99846561-99846562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573404137	chr9:99846650-99846651	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529477704	chr9:99846667-99846668	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146775351	chr9:99846683-99846684	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs191780899	chr9:99846692-99846693	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs184099650	chr9:99846702-99846703	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570018322	chr9:99846716-99846717	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs140555446	chr9:99846756-99846757	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs566906580	chr9:99846772-99846773	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs144881149	chr9:99846856-99846857	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs189929693	chr9:99846873-99846874	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs193195619	chr9:99846893-99846894	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs538061529	chr9:99846901-99846902	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185544143	chr9:99846933-99846934	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370118881	chr9:99846961-99846962	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs540404721	chr9:99846973-99846974	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs571263905	chr9:99846990-99846991	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs538582059	chr9:99847023-99847024	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs553485841	chr9:99847078-99847079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs559039849	chr9:99847150-99847151	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571747630	chr9:99847161-99847162	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs534204591	chr9:99847167-99847168	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs138774847	chr9:99847175-99847176	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs577291474	chr9:99847233-99847234	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140282058	chr9:99847253-99847254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573865469	chr9:99847347-99847348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544492308	chr9:99847350-99847351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs374640736	chr9:99847379-99847380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544608417	chr9:99847392-99847393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368577919	chr9:99847445-99847446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150341078	chr9:99847464-99847465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138046400	chr9:99847507-99847508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144774379	chr9:99847513-99847514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28803929	chr9:99847543-99847544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4742681	chr9:99847569-99847570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190672746	chr9:99847634-99847635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147177118	chr9:99847635-99847636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111370798	chr9:99847805-99847806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99843000-99850000	Weak transcription	Fetal Heart	heart
2	chr9:99846400-99846800	Enhancers	HSMMtube	muscle
3	chr9:99846400-99847000	Enhancers	K562	blood
4	chr9:99846800-99849000	Weak transcription	HSMMtube	muscle
5	chr9:99849000-99849600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:99849000-99849600	Enhancers	HSMMtube	muscle
7	chr9:99849000-99850800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:99849200-99851600	Enhancers	HSMM	muscle
9	chr9:99849200-99852200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:99849400-99850200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:99849400-99851600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:99849400-99852200	Enhancers	HMEC	breast
13	chr9:99849600-99850000	Flanking Active TSS	HSMMtube	muscle
14	chr9:99849600-99850200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:99849600-99850800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:99849600-99851000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:99849600-99851400	Enhancers	NHEK	skin
18	chr9:99849600-99851800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:99849800-99850200	Enhancers	Placenta	Placenta
20	chr9:99849800-99850600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:99849800-99850600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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