Variant report

Variant	esv2752291
Chromosome Location	chr9:26265534-26395883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:25963971..25964744-chr9:26326247..26327016,2	MCF-7	breast:
2	chr9:26326443..26327103-chr9:26862889..26863559,2	MCF-7	breast:
3	chr9:25964124..25964728-chr9:26326171..26327079,3	MCF-7	breast:

Extended variants
information (count: 2827 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:2827 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10967280	chr9:26265534-26265535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564728042	chr9:26265576-26265577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550275976	chr9:26265655-26265656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73425990	chr9:26265667-26265668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550368975	chr9:26265695-26265696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568648376	chr9:26265707-26265708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185478689	chr9:26265734-26265735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547964823	chr9:26265735-26265736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566607362	chr9:26265737-26265738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533515189	chr9:26265769-26265770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558148201	chr9:26265795-26265796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375707985	chr9:26265803-26265804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs654048	chr9:26265879-26265880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558019644	chr9:26265889-26265890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537726772	chr9:26265943-26265944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116164806	chr9:26265977-26265978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574539408	chr9:26265986-26265987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10967281	chr9:26266001-26266002	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140977400	chr9:26266027-26266028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150231049	chr9:26266088-26266089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191120914	chr9:26266089-26266090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546182491	chr9:26266106-26266107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183382373	chr9:26266112-26266113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114173640	chr9:26266143-26266144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550480214	chr9:26266145-26266146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562444535	chr9:26266152-26266153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529460896	chr9:26266163-26266164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114752941	chr9:26266182-26266183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566411496	chr9:26266224-26266225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115120252	chr9:26266241-26266242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73645336	chr9:26266257-26266258	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570097801	chr9:26266293-26266294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537490892	chr9:26266304-26266305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12551539	chr9:26266309-26266310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556038621	chr9:26266341-26266342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574682135	chr9:26266415-26266416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563722224	chr9:26266419-26266420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115014194	chr9:26266428-26266429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138710199	chr9:26266456-26266457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572419436	chr9:26266476-26266477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368029020	chr9:26266546-26266547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116746660	chr9:26266566-26266567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576496186	chr9:26266580-26266581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13292774	chr9:26266610-26266611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543883834	chr9:26266612-26266613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550852520	chr9:26266637-26266638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370067079	chr9:26266661-26266662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149339099	chr9:26266685-26266686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188041152	chr9:26266732-26266733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559875787	chr9:26266742-26266743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Cancer	22183965	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
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
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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	21525872	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26262000-26267000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:26262000-26267800	Enhancers	Hela-S3	cervix
3	chr9:26264000-26266800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:26264000-26266800	Enhancers	NHDF-Ad	bronchial
5	chr9:26264200-26266800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:26264800-26266400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:26264800-26266800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:26264800-26266800	Enhancers	HMEC	breast
9	chr9:26264800-26266800	Enhancers	HSMM	muscle
10	chr9:26264800-26266800	Enhancers	NH-A	brain
11	chr9:26265000-26266000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:26265000-26266200	Enhancers	HUVEC	blood vessel
13	chr9:26265000-26266600	Enhancers	NHEK	skin
14	chr9:26265200-26265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:26265400-26266400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:26265400-26266400	Enhancers	HSMMtube	muscle
17	chr9:26266000-26271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:26266400-26267400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:26266800-26271600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:26267000-26271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:26271400-26271800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:26271600-26272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:26271600-26272200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:26271600-26272800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:26271600-26273600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:26271600-26273800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:26272200-26272600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:26272200-26273000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:26272200-26273200	Enhancers	Fetal Lung	lung
30	chr9:26272200-26277200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:26272400-26272600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr9:26272400-26274000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:26272600-26273600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:26272800-26273800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:26273400-26273800	Enhancers	A549	lung
36	chr9:26273600-26274000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:26273800-26274000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:26275200-26275600	Enhancers	HUVEC	blood vessel
39	chr9:26277200-26277600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:26277200-26278200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:26289200-26289400	Enhancers	NHDF-Ad	bronchial
42	chr9:26289800-26292000	Weak transcription	NHDF-Ad	bronchial
43	chr9:26290600-26290800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:26290800-26291400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:26290800-26292800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr9:26290800-26294200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:26291400-26294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:26291800-26292000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:26291800-26292200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:26292000-26292600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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