Variant report

Variant	esv2764143
Chromosome Location	chr9:27248177-27248644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:27247560..27248337-chr9:27547652..27548456,2	MCF-7	breast:
2	chr9:27033902..27034442-chr9:27247489..27248319,2	MCF-7	breast:
3	chr9:27247423..27248703-chr9:27275999..27276820,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf11-1	chr9:27248410-27248517	l_3745_NR_026687
2	lnc-C9orf11-1	chr9:27248410-27248517	NONHSAT130610

Extended variants
information (count: 19 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7042745	chr9:27248177-27248178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10967809	chr9:27248189-27248190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544350321	chr9:27248229-27248230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386733904	chr9:27248306-27248307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7042665	chr9:27248308-27248309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559665159	chr9:27248354-27248355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183693637	chr9:27248369-27248370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7028319	chr9:27248395-27248396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545106597	chr9:27248404-27248405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563663098	chr9:27248420-27248421	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs117621005	chr9:27248447-27248448	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs370488363	chr9:27248474-27248475	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs374071471	chr9:27248538-27248539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549409247	chr9:27248569-27248570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187505008	chr9:27248586-27248587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139566663	chr9:27248588-27248589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6475977	chr9:27248614-27248615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs142756769	chr9:27248636-27248637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10812542	chr9:27248644-27248645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	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
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27247600-27248200	Enhancers	Stomach Mucosa	stomach
2	chr9:27247600-27248600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:27247600-27249400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:27247800-27248600	Enhancers	Placenta	Placenta
5	chr9:27247800-27249000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:27247800-27249200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:27247800-27249200	Enhancers	NHEK	skin
8	chr9:27247800-27249400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:27247800-27249400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:27247800-27249400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:27247800-27249400	Enhancers	Osteobl	bone
12	chr9:27248000-27248800	Enhancers	Hela-S3	cervix
13	chr9:27248200-27249400	Enhancers	HSMM	muscle
14	chr9:27248400-27249200	Enhancers	Placenta Amnion	Placenta Amnion

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