Variant report

Variant	nsv1033265
Chromosome Location	chr9:26242026-26425832
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:
4	chr9:26237527..26239681-chr9:26241580..26243699,2	MCF-7	breast:

Extended variants
information (count: 4437 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:4437 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535595355	chr9:26242039-26242040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186248264	chr9:26242048-26242049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572352368	chr9:26242062-26242063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573771030	chr9:26242067-26242068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544285521	chr9:26242086-26242087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370358949	chr9:26242094-26242095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553040745	chr9:26242123-26242124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2060439	chr9:26242136-26242137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544026212	chr9:26242145-26242146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562307111	chr9:26242174-26242175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537808791	chr9:26242184-26242185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10967259	chr9:26242203-26242204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191122978	chr9:26242214-26242215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552491607	chr9:26242237-26242238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564351909	chr9:26242263-26242264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560164938	chr9:26242309-26242310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528329675	chr9:26242334-26242335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568238717	chr9:26242355-26242356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150913037	chr9:26242416-26242417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2033594	chr9:26242441-26242442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570636233	chr9:26242442-26242443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538188035	chr9:26242452-26242453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540922676	chr9:26242459-26242460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549557021	chr9:26242468-26242469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567923383	chr9:26242551-26242552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568182208	chr9:26242554-26242555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375343040	chr9:26242590-26242591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535486324	chr9:26242593-26242594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370927974	chr9:26242619-26242620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373671797	chr9:26242644-26242645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553863705	chr9:26242651-26242652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138271932	chr9:26242658-26242659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560719196	chr9:26242724-26242725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539429253	chr9:26242777-26242778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558178142	chr9:26242840-26242841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149625593	chr9:26242843-26242844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183383854	chr9:26242878-26242879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572133680	chr9:26242905-26242906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188075779	chr9:26242942-26242943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144338697	chr9:26242979-26242980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574303375	chr9:26242990-26242991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566308620	chr9:26243005-26243006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34889590	chr9:26243044-26243045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs67619035	chr9:26243048-26243049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs398010521	chr9:26243069-26243070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34315122	chr9:26243070-26243071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368000930	chr9:26243071-26243072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1347377	chr9:26243073-26243074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77958843	chr9:26243086-26243087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559978633	chr9:26243112-26243113	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:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26237800-26242800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:26239800-26242600	Weak transcription	HUVEC	blood vessel
3	chr9:26240400-26249400	Enhancers	Hela-S3	cervix
4	chr9:26241600-26242200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:26242200-26242600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:26242600-26245000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:26242600-26245000	Enhancers	HUVEC	blood vessel
8	chr9:26242800-26245400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:26243200-26243800	Enhancers	NH-A	brain
10	chr9:26243200-26244400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:26243200-26244400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:26243200-26244800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:26243200-26244800	Enhancers	A549	lung
14	chr9:26243200-26245800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:26243200-26248600	Enhancers	NHDF-Ad	bronchial
16	chr9:26243400-26245800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:26243800-26245600	Enhancers	Fetal Kidney	kidney
18	chr9:26244400-26245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:26245200-26245400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:26245400-26247800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:26245800-26247400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:26245800-26248000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:26247400-26249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:26247800-26248600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:26248000-26248600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:26249400-26256800	Weak transcription	Hela-S3	cervix
27	chr9:26249800-26250200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:26250200-26253400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:26256000-26256400	Enhancers	NHEK	skin
30	chr9:26256200-26256800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:26256400-26259600	Weak transcription	NHEK	skin
32	chr9:26256800-26259400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:26256800-26260200	Enhancers	Hela-S3	cervix
34	chr9:26259200-26260000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:26259200-26260000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:26259200-26260800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:26259200-26262800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:26259200-26262800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:26259200-26263200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:26259400-26259800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:26259400-26260000	Enhancers	A549	lung
42	chr9:26259400-26260000	Enhancers	HUVEC	blood vessel
43	chr9:26259400-26260200	Enhancers	NH-A	brain
44	chr9:26259400-26262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:26259400-26262800	Enhancers	HMEC	breast
46	chr9:26259600-26260000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr9:26259600-26261800	Enhancers	HSMM	muscle
48	chr9:26259600-26261800	Enhancers	NHEK	skin
49	chr9:26259800-26260400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:26259800-26260800	Enhancers	HSMMtube	muscle

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