Variant report

Variant	esv2755066
Chromosome Location	chr9:25268867-25352691
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:25321931..25322446-chr9:25349957..25350559,2	MCF-7	breast:
2	chr9:25292451..25293431-chr9:25673511..25674229,2	MCF-7	breast:
3	chr9:25349920..25350511-chr9:25716130..25716944,2	MCF-7	breast:
4	chr9:25267661..25270080-chr9:25677540..25679201,2	MCF-7	breast:
5	chr9:25346387..25349185-chr9:25351167..25353046,2	MCF-7	breast:
6	chr9:25350133..25352434-chr9:25677647..25679713,3	MCF-7	breast:
7	chr9:25321931..25322446-chr9:25349957..25350559,2	MCF-7	breast:
8	chr9:25346387..25349185-chr9:25351167..25353046,2	MCF-7	breast:
9	chr9:25352690..25354379-chr9:25676635..25678931,2	MCF-7	breast:
10	chr9:24613953..24614528-chr9:25350122..25350850,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TUSC1-1	chr9:25290336-25290489	NONHSAT130499
2	lnc-TUSC1-1	chr9:25288488-25288555	NONHSAT130499

No data

Variant related genes	Relation type
ENSG00000198680	chromatin interactions

Extended variants
information (count: 970 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12376894	chr9:25268867-25268868	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571434134	chr9:25268903-25268904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534019968	chr9:25268909-25268910	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201979535	chr9:25268967-25268968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534480727	chr9:25269010-25269011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144560215	chr9:25269048-25269049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139335867	chr9:25269051-25269052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs28372667	chr9:25269077-25269078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530038651	chr9:25269107-25269108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555838237	chr9:25269172-25269173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575674528	chr9:25269179-25269180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544664255	chr9:25269261-25269262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs146103772	chr9:25269292-25269293	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112441186	chr9:25269293-25269294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140022512	chr9:25269323-25269324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111797365	chr9:25269324-25269325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574852313	chr9:25269342-25269343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546248761	chr9:25269360-25269361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371466721	chr9:25269361-25269362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560674360	chr9:25269374-25269375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs193170876	chr9:25269416-25269417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10966825	chr9:25269417-25269418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548822982	chr9:25269426-25269427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541889608	chr9:25269435-25269436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs118033109	chr9:25269437-25269438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73474189	chr9:25269443-25269444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560501706	chr9:25269459-25269460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115395287	chr9:25269488-25269489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571588287	chr9:25269506-25269507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184759879	chr9:25269546-25269547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs151315350	chr9:25269586-25269587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567171108	chr9:25269620-25269621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536028564	chr9:25269621-25269622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556304653	chr9:25269641-25269642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555872933	chr9:25269649-25269650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs72703836	chr9:25269652-25269653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561556083	chr9:25269708-25269709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558281526	chr9:25269734-25269735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571970276	chr9:25269766-25269767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1758737	chr9:25269786-25269787	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192652053	chr9:25269792-25269793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553958457	chr9:25269828-25269829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28630763	chr9:25269872-25269873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150027921	chr9:25269897-25269898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114730444	chr9:25269902-25269903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145322112	chr9:25269911-25269912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542655219	chr9:25269967-25269968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142570948	chr9:25269992-25269993	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565137549	chr9:25269997-25269998	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188401055	chr9:25283654-25283655	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	21811587	CNVD
early-passage human iPS cells	21368824	CNVD
Chordoma	21215367	CNVD
Bipolar disorder	19114987	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25283600-25283800	Enhancers	Fetal Lung	lung
2	chr9:25283800-25284600	Weak transcription	Fetal Lung	lung
3	chr9:25284600-25285400	Enhancers	Fetal Lung	lung
4	chr9:25286600-25288200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:25287800-25288200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:25288000-25288200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:25289200-25291200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:25291800-25292000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:25292000-25292400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:25292400-25295600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:25295400-25296200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:25295600-25296000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:25295600-25296000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:25310800-25312000	Enhancers	Fetal Brain Male	brain
15	chr9:25311000-25311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:25311000-25311400	Enhancers	Adipose Nuclei	Adipose
17	chr9:25323400-25323800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:25323800-25325400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:25325400-25325600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:25325600-25326000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:25325800-25326200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:25325800-25326200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:25326000-25326400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:25334400-25334600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:25347200-25348400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:25350000-25350200	Enhancers	Fetal Brain Male	brain

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