Variant report

Variant	esv2756319
Chromosome Location	chr9:1185520-1293110
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:1197110..1199229-chr9:1201325..1204281,3	MCF-7	breast:
2	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:
3	chr9:1050050..1050882-chr9:1198084..1198894,4	MCF-7	breast:
4	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
5	chr17:35897413..35898334-chr9:1234312..1235126,2	MCF-7	breast:
6	chr9:1048582..1050101-chr9:1206689..1209470,2	MCF-7	breast:
7	chr9:1048591..1051547-chr9:1195558..1198367,2	MCF-7	breast:
8	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
9	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
10	chr9:1050299..1051218-chr9:1211358..1212168,3	MCF-7	breast:
11	chr9:1197110..1199229-chr9:1201325..1204281,3	MCF-7	breast:
12	chr9:1050302..1051381-chr9:1211162..1212085,6	MCF-7	breast:
13	chr9:1050169..1051008-chr9:1198034..1198952,5	MCF-7	breast:
14	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:
15	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
16	chr9:1050662..1052458-chr9:1210912..1212810,2	MCF-7	breast:
17	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:
18	chr9:1050736..1051474-chr9:1211377..1212172,7	MCF-7	breast:
19	chr9:1049307..1051830-chr9:1209993..1212929,2	MCF-7	breast:
20	chr9:1049962..1051601-chr9:1206448..1208602,2	MCF-7	breast:
21	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-4	chr9:1288277-1288431	l_3725_chr9:1288276-1302899_breast
2	lnc-DMRT2-4	chr9:1289314-1289412	l_3725_chr9:1288276-1302899_breast

No data

Variant related genes	Relation type
ENSG00000006114	chromatin interactions
ENSG00000173253	chromatin interactions

Extended variants
information (count: 3849 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3849 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546673974	chr9:1185523-1185524	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs370174596	chr9:1185524-1185525	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs16930858	chr9:1185525-1185526	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75218879	chr9:1185545-1185546	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs549303513	chr9:1185587-1185588	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs185845788	chr9:1185597-1185598	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs202142907	chr9:1187224-1187225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188270221	chr9:1187225-1187226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs542506602	chr9:1187230-1187231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528452845	chr9:1187238-1187239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548900955	chr9:1187244-1187245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149738340	chr9:1187252-1187253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537262436	chr9:1187253-1187254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs10124887	chr9:1187255-1187256	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570954070	chr9:1187256-1187257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147775645	chr9:1187262-1187263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558191181	chr9:1187289-1187290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192601043	chr9:1187309-1187310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141082044	chr9:1187316-1187317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112239818	chr9:1187317-1187318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184534364	chr9:1187320-1187321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112083904	chr9:1187356-1187357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs367549692	chr9:1187365-1187366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs10960216	chr9:1187390-1187391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs375690804	chr9:1187394-1187395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113101465	chr9:1187429-1187430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546285583	chr9:1187440-1187441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs559837684	chr9:1187463-1187464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs371579374	chr9:1187480-1187481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs528516782	chr9:1187481-1187482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564231759	chr9:1187496-1187497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs148383421	chr9:1187500-1187501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562045482	chr9:1187501-1187502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531284647	chr9:1187521-1187522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371674242	chr9:1187523-1187524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112975365	chr9:1187529-1187530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13300198	chr9:1187537-1187538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372634584	chr9:1187539-1187540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571256724	chr9:1187556-1187557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs13300212	chr9:1187564-1187565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs13295356	chr9:1187581-1187582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs13295362	chr9:1187589-1187590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13295368	chr9:1187596-1187597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186603802	chr9:1187602-1187603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs13300368	chr9:1187608-1187609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs13295494	chr9:1187616-1187617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs551877712	chr9:1187654-1187655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs202219608	chr9:1187659-1187660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200565847	chr9:1187685-1187686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs529223177	chr9:1187701-1187702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1185400-1185600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:1187200-1187800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:1187400-1187800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:1197400-1198000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr9:1197600-1197800	Enhancers	Esophagus	oesophagus
6	chr9:1197600-1198600	Enhancers	NHDF-Ad	bronchial
7	chr9:1197600-1198800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:1197600-1198800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:1197800-1198800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:1197800-1198800	Weak transcription	Esophagus	oesophagus
11	chr9:1198000-1198400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr9:1198400-1199200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr9:1198800-1199000	Enhancers	Psoas Muscle	Psoas
14	chr9:1198800-1199800	Enhancers	Esophagus	oesophagus
15	chr9:1198800-1200800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:1198800-1202600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:1199400-1199600	Enhancers	Brain Substantia Nigra	brain
18	chr9:1199400-1200600	Weak transcription	Psoas Muscle	Psoas
19	chr9:1199800-1200600	Weak transcription	Esophagus	oesophagus
20	chr9:1200000-1203600	Enhancers	Liver	Liver
21	chr9:1200400-1201400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr9:1200600-1201600	Enhancers	Esophagus	oesophagus
23	chr9:1200600-1201600	Enhancers	Fetal Lung	lung
24	chr9:1200600-1201600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:1200600-1201800	Enhancers	HepG2	liver
26	chr9:1200600-1202200	Enhancers	Fetal Muscle Leg	muscle
27	chr9:1200600-1202200	Enhancers	Pancreas	Pancrea
28	chr9:1200600-1203000	Enhancers	Psoas Muscle	Psoas
29	chr9:1200800-1201200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:1200800-1201400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:1201000-1201600	Enhancers	Adipose Nuclei	Adipose
32	chr9:1201000-1201600	Enhancers	Gastric	stomach
33	chr9:1201000-1202000	Enhancers	Fetal Brain Male	brain
34	chr9:1201000-1202000	Enhancers	Fetal Muscle Trunk	muscle
35	chr9:1201000-1202000	Enhancers	Lung	lung
36	chr9:1201000-1202200	Enhancers	Left Ventricle	heart
37	chr9:1201200-1201600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:1201200-1202800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:1201400-1202000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr9:1201400-1202400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:1201600-1202600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr9:1201600-1202800	Weak transcription	Adipose Nuclei	Adipose
43	chr9:1201600-1209400	Weak transcription	Gastric	stomach
44	chr9:1202000-1202400	Weak transcription	Fetal Brain Male	brain
45	chr9:1202000-1203000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr9:1202400-1203400	Enhancers	Fetal Brain Male	brain
47	chr9:1202400-1203800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:1202600-1202800	Weak transcription	Brain Substantia Nigra	brain
49	chr9:1202600-1203000	Enhancers	Brain Cingulate Gyrus	brain
50	chr9:1202600-1203000	Enhancers	Brain Germinal Matrix	brain

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