Variant report

Variant	esv3368002
Chromosome Location	chr9:14913102-14915200
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	ARID3A	chr9:14913278-14913856	HepG2	liver:	n/a	n/a
2	EP300	chr9:14913333-14913805	HepG2	liver:	n/a	n/a
3	EP300	chr9:14913471-14913672	HepG2	liver:	n/a	n/a
4	FOXA1	chr9:14913219-14913838	HepG2	liver:	n/a	n/a
5	FOXA1	chr9:14913323-14913808	HepG2	liver:	n/a	n/a
6	FOXA1	chr9:14913364-14913687	HepG2	liver:	n/a	n/a
7	FOXA2	chr9:14913374-14913737	HepG2	liver:	n/a	n/a
8	FOXA2	chr9:14913027-14914012	HepG2	liver:	n/a	n/a
9	GATA3	chr9:14913357-14913723	MCF-7	breast:	n/a	chr9:14913490-14913498
10	NFIC	chr9:14913244-14913863	HepG2	liver:	n/a	n/a
11	NR2F2	chr9:14913425-14913769	MCF-7	breast:	n/a	n/a
12	NR2F2	chr9:14913404-14913803	HepG2	liver:	n/a	n/a
13	NR2F2	chr9:14913286-14913829	HepG2	liver:	n/a	n/a
14	NR2F2	chr9:14913369-14913759	MCF-7	breast:	n/a	n/a
15	RFX5	chr9:14914771-14914797	K562	blood:	n/a	n/a
16	STAT3	chr9:14914213-14914589	MCF10A-Er-Src	breast:	n/a	n/a
17	TEAD4	chr9:14913310-14913842	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14914097..14915785-chr9:14923708..14925930,2	K562	blood:

Variant related genes	Relation type
FREM1	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565890711	chr9:14913114-14913115	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575680026	chr9:14913120-14913121	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs77288935	chr9:14913163-14913164	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs115763522	chr9:14913166-14913167	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573285320	chr9:14913216-14913217	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs75621810	chr9:14913232-14913233	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113374565	chr9:14913272-14913273	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148739139	chr9:14913290-14913291	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs188314425	chr9:14913310-14913311	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs78390793	chr9:14913389-14913390	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs529463701	chr9:14913394-14913395	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201515739	chr9:14913479-14913480	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566249766	chr9:14913484-14913485	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs180784248	chr9:14913529-14913530	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370160357	chr9:14913566-14913567	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184803527	chr9:14913599-14913600	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs571442530	chr9:14913609-14913610	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550837133	chr9:14913617-14913618	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs73642459	chr9:14913642-14913643	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115623930	chr9:14913656-14913657	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs537029963	chr9:14913665-14913666	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs77555815	chr9:14913727-14913728	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs570397265	chr9:14913754-14913755	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs77389619	chr9:14913783-14913784	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199711758	chr9:14913810-14913811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189222581	chr9:14913830-14913831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557295251	chr9:14913838-14913839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs535245263	chr9:14913843-14913844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78216450	chr9:14913913-14913914	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs535668065	chr9:14913914-14913915	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs7027126	chr9:14913926-14913927	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574522155	chr9:14913927-14913928	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141889058	chr9:14913968-14913969	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs13295343	chr9:14914066-14914067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375601362	chr9:14914071-14914072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56165039	chr9:14914072-14914073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373650819	chr9:14914073-14914074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13295347	chr9:14914074-14914075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536505972	chr9:14914141-14914142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540689169	chr9:14914166-14914167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372232664	chr9:14914175-14914176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543028699	chr9:14914176-14914177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553306398	chr9:14914181-14914182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182004068	chr9:14914187-14914188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573070209	chr9:14914274-14914275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs186542986	chr9:14914285-14914286	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs191824377	chr9:14914304-14914305	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs562779579	chr9:14914348-14914349	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs143585722	chr9:14914372-14914373	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545377734	chr9:14914373-14914374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14907400-14915000	Weak transcription	Small Intestine	intestine
2	chr9:14910400-14921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:14910800-14915800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:14911000-14913400	Enhancers	Fetal Lung	lung
5	chr9:14911200-14913200	Enhancers	Fetal Kidney	kidney
6	chr9:14912400-14913800	Enhancers	HepG2	liver
7	chr9:14912600-14913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:14912800-14913200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:14913000-14913200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:14913000-14913200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:14913000-14913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:14913000-14913200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:14913000-14913400	Enhancers	Brain Germinal Matrix	brain
14	chr9:14913800-14915000	Weak transcription	HepG2	liver
15	chr9:14915000-14916800	Enhancers	HepG2	liver

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