Variant report

Variant	esv3386089
Chromosome Location	chr9:110032581-110035729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110034708..110043058-chr9:110043083..110050663,16	MCF-7	breast:
2	chr9:110030757..110033354-chr9:110044206..110047003,3	MCF-7	breast:
3	chr9:110030231..110032782-chr9:110035060..110038842,3	MCF-7	breast:
4	chr9:110031224..110033017-chr9:110046490..110048325,2	K562	blood:
5	chr9:110030231..110032782-chr9:110035060..110038842,3	MCF-7	breast:
6	chr9:110021549..110024530-chr9:110031690..110034147,2	MCF-7	breast:
7	chr9:110022816..110024667-chr9:110034684..110036365,2	MCF-7	breast:
8	chr9:110007873..110010290-chr9:110031092..110033178,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119318	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184262881	chr9:110032596-110032597	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs80297533	chr9:110032604-110032605	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146891706	chr9:110032628-110032629	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539573584	chr9:110032666-110032667	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189541001	chr9:110032670-110032671	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72736122	chr9:110032698-110032699	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140658231	chr9:110032724-110032725	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547352800	chr9:110032794-110032795	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556135626	chr9:110032795-110032796	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181039049	chr9:110032814-110032815	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560466853	chr9:110032865-110032866	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs367756586	chr9:110032904-110032905	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72736180	chr9:110032938-110032939	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78985281	chr9:110032962-110032963	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572149296	chr9:110032983-110032984	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545105889	chr9:110032986-110032987	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371604540	chr9:110033019-110033020	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564185312	chr9:110033025-110033026	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531178397	chr9:110033068-110033069	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568438822	chr9:110033101-110033102	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143932915	chr9:110033132-110033133	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535975732	chr9:110033145-110033146	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375617536	chr9:110033149-110033150	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543416759	chr9:110033204-110033205	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550883300	chr9:110033210-110033211	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562236331	chr9:110033330-110033331	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565015784	chr9:110033355-110033356	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185500985	chr9:110033394-110033395	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115712193	chr9:110033396-110033397	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370093232	chr9:110033432-110033433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141423502	chr9:110033442-110033443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12005279	chr9:110033445-110033446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56025251	chr9:110033448-110033449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370798283	chr9:110033455-110033456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78634195	chr9:110033597-110033598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76980015	chr9:110033612-110033613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377492933	chr9:110033637-110033638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111257829	chr9:110033677-110033678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4330776	chr9:110033734-110033735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62567736	chr9:110034024-110034025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62567737	chr9:110034117-110034118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370917590	chr9:110034351-110034352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544736635	chr9:110034446-110034447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375019602	chr9:110034462-110034463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547563961	chr9:110034617-110034618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368066016	chr9:110034719-110034720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533367270	chr9:110034732-110034733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371999581	chr9:110034733-110034734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79477708	chr9:110034752-110034753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570139810	chr9:110034756-110034757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110028200-110032800	Weak transcription	Pancreas	Pancrea
2	chr9:110029400-110032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:110029400-110035800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:110031400-110033400	Enhancers	Adipose Nuclei	Adipose
5	chr9:110031600-110032600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:110031600-110033000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:110031600-110033000	Enhancers	Fetal Intestine Small	intestine
8	chr9:110031600-110033200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:110031600-110033200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:110031600-110033200	Enhancers	Fetal Intestine Large	intestine
11	chr9:110031600-110033200	Enhancers	Placenta	Placenta
12	chr9:110031600-110033200	Enhancers	Ovary	ovary
13	chr9:110031600-110033200	Enhancers	HSMMtube	muscle
14	chr9:110031600-110033200	Enhancers	NHLF	lung
15	chr9:110031600-110033200	Enhancers	Osteobl	bone
16	chr9:110031600-110033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:110031600-110033400	Enhancers	HMEC	breast
18	chr9:110031600-110033400	Enhancers	NHDF-Ad	bronchial
19	chr9:110031800-110032600	Enhancers	Liver	Liver
20	chr9:110031800-110032600	Weak transcription	HSMM	muscle
21	chr9:110031800-110033000	Flanking Active TSS	A549	lung
22	chr9:110031800-110033000	Flanking Active TSS	HepG2	liver
23	chr9:110031800-110033200	Enhancers	Fetal Lung	lung
24	chr9:110031800-110033200	Enhancers	Hela-S3	cervix
25	chr9:110032000-110033400	Enhancers	Stomach Mucosa	stomach
26	chr9:110032200-110032600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:110032200-110033000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:110032200-110033000	Enhancers	Duodenum Mucosa	Duodenum
29	chr9:110032200-110033200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:110032600-110032800	Flanking Active TSS	Liver	Liver
31	chr9:110032600-110033400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:110032600-110033400	Enhancers	HSMM	muscle
33	chr9:110032600-110036600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:110032800-110033000	Bivalent Enhancer	Aorta	Aorta
35	chr9:110032800-110033000	Enhancers	Liver	Liver
36	chr9:110032800-110033200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:110032800-110033200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:110032800-110033200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:110032800-110033200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:110032800-110033200	Enhancers	Gastric	stomach
41	chr9:110032800-110033200	Enhancers	Lung	lung
42	chr9:110032800-110033200	Enhancers	Pancreas	Pancrea
43	chr9:110032800-110033200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr9:110032800-110033200	Enhancers	Right Atrium	heart
45	chr9:110032800-110033200	Enhancers	Spleen	Spleen
46	chr9:110032800-110033200	Enhancers	GM12878-XiMat	blood
47	chr9:110033000-110033200	Flanking Active TSS	Liver	Liver
48	chr9:110033000-110033200	Enhancers	Left Ventricle	heart
49	chr9:110033000-110033200	Bivalent Enhancer	K562	blood
50	chr9:110033000-110033400	Enhancers	A549	lung

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