Variant report

Variant	esv2757329
Chromosome Location	chr9:25221244-25384959
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:25292451..25293431-chr9:25673511..25674229,2	MCF-7	breast:
2	chr9:25267661..25270080-chr9:25677540..25679201,2	MCF-7	breast:
3	chr9:25350133..25352434-chr9:25677647..25679713,3	MCF-7	breast:
4	chr9:25261310..25262090-chr9:25716255..25716920,2	MCF-7	breast:
5	chr9:25321931..25322446-chr9:25349957..25350559,2	MCF-7	breast:
6	chr9:25321931..25322446-chr9:25349957..25350559,2	MCF-7	breast:
7	chr9:25352690..25354379-chr9:25676635..25678931,2	MCF-7	breast:
8	chr9:25346387..25349185-chr9:25351167..25353046,2	MCF-7	breast:
9	chr9:25349920..25350511-chr9:25716130..25716944,2	MCF-7	breast:
10	chr9:25346387..25349185-chr9:25351167..25353046,2	MCF-7	breast:
11	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: 2007 )
Associated
traits (count: 148 )

Variant overlapped rSNPs/rCNVs (count:2007 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539733503	chr9:25226025-25226026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs531933443	chr9:25226032-25226033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550523050	chr9:25226049-25226050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566905201	chr9:25226058-25226059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535954924	chr9:25226062-25226063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571853226	chr9:25226076-25226077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555413572	chr9:25226078-25226079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575313820	chr9:25226151-25226152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537885038	chr9:25226155-25226156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs35907400	chr9:25226165-25226166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183137053	chr9:25226188-25226189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186316474	chr9:25226201-25226202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs560308184	chr9:25226202-25226203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554262653	chr9:25226210-25226211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547226720	chr9:25226221-25226222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542763602	chr9:25226247-25226248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs144689514	chr9:25226277-25226278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189547048	chr9:25226284-25226285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs548973610	chr9:25226310-25226311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569538419	chr9:25226326-25226327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs140153132	chr9:25226331-25226332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564869221	chr9:25226360-25226361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs9406869	chr9:25226363-25226364	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554690080	chr9:25226372-25226373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539543801	chr9:25226376-25226377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567070227	chr9:25226381-25226382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7851071	chr9:25226392-25226393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549150731	chr9:25226397-25226398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569051512	chr9:25226405-25226406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537947171	chr9:25226450-25226451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557734978	chr9:25226456-25226457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs145647189	chr9:25226461-25226462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544088183	chr9:25226467-25226468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113285977	chr9:25226552-25226553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs556080846	chr9:25226560-25226561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs573854671	chr9:25226561-25226562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs542875882	chr9:25226577-25226578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182853043	chr9:25226583-25226584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187784375	chr9:25226602-25226603	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576249613	chr9:25226650-25226651	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192899088	chr9:25226728-25226729	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544804650	chr9:25226733-25226734	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559772524	chr9:25226783-25226784	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564905405	chr9:25226786-25226787	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369047869	chr9:25226804-25226805	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111272754	chr9:25226805-25226806	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183147423	chr9:25226827-25226828	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187450209	chr9:25226851-25226852	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560656563	chr9:25226860-25226861	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147752998	chr9:25226861-25226862	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:148)

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
Melanoma	17363583	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
Cancer	21215367	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25226000-25226600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr9:25226200-25226800	ZNF genes & repeats	Pancreas	Pancrea
3	chr9:25226600-25227000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr9:25226600-25227000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr9:25226600-25227600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr9:25226800-25227200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr9:25227000-25227200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:25227000-25227200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:25227200-25227400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:25227200-25227400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:25227200-25227400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr9:25227400-25227600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr9:25227400-25227600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr9:25227600-25227800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr9:25227800-25228000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:25253200-25254000	Enhancers	Fetal Brain Female	brain
17	chr9:25253400-25255800	Enhancers	Fetal Brain Male	brain
18	chr9:25254000-25254600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:25255000-25255400	Active TSS	HSMM	muscle
20	chr9:25259000-25260200	Enhancers	Fetal Kidney	kidney
21	chr9:25260200-25265000	Weak transcription	Fetal Kidney	kidney
22	chr9:25265000-25268000	Active TSS	Fetal Kidney	kidney
23	chr9:25266800-25267200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:25283600-25283800	Enhancers	Fetal Lung	lung
25	chr9:25283800-25284600	Weak transcription	Fetal Lung	lung
26	chr9:25284600-25285400	Enhancers	Fetal Lung	lung
27	chr9:25286600-25288200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:25287800-25288200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr9:25288000-25288200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:25289200-25291200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:25291800-25292000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:25292000-25292400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:25292400-25295600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:25295400-25296200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:25295600-25296000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:25295600-25296000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr9:25310800-25312000	Enhancers	Fetal Brain Male	brain
38	chr9:25311000-25311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:25311000-25311400	Enhancers	Adipose Nuclei	Adipose
40	chr9:25323400-25323800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:25323800-25325400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:25325400-25325600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:25325600-25326000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:25325800-25326200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:25325800-25326200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:25326000-25326400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr9:25334400-25334600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:25347200-25348400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr9:25350000-25350200	Enhancers	Fetal Brain Male	brain
50	chr9:25354400-25355400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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