Variant report

Variant	nsv613923
Chromosome Location	chr9:26005487-26112748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2185 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:2185 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184141347	chr9:26012627-26012628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533996590	chr9:26012636-26012637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558430335	chr9:26012690-26012691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138251344	chr9:26012720-26012721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538132811	chr9:26012743-26012744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556620184	chr9:26012779-26012780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73489113	chr9:26012817-26012818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73489115	chr9:26012877-26012878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554262186	chr9:26012881-26012882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188933572	chr9:26012890-26012891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149196939	chr9:26013021-26013022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111365298	chr9:26013035-26013036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546387641	chr9:26013050-26013051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564521613	chr9:26013068-26013069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531910705	chr9:26013089-26013090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543693335	chr9:26013096-26013097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143472619	chr9:26013127-26013128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10114317	chr9:26013129-26013130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10114362	chr9:26013142-26013143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55981606	chr9:26013156-26013157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192913238	chr9:26013178-26013179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539656078	chr9:26013184-26013185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143408058	chr9:26013199-26013200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570529932	chr9:26013202-26013203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115687058	chr9:26013265-26013266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75878172	chr9:26013290-26013291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371209067	chr9:26013296-26013297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568332924	chr9:26013303-26013304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10120408	chr9:26013325-26013326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553840498	chr9:26013450-26013451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572542832	chr9:26013481-26013482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545959820	chr9:26013483-26013484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572523855	chr9:26013519-26013520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576243926	chr9:26013539-26013540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1412449	chr9:26013550-26013551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185531502	chr9:26013561-26013562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10120455	chr9:26013566-26013567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112348748	chr9:26013657-26013658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559892968	chr9:26013667-26013668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527412634	chr9:26013681-26013682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551972947	chr9:26013684-26013685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561214604	chr9:26013686-26013687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531560440	chr9:26013712-26013713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386733822	chr9:26013725-26013726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1412448	chr9:26013727-26013728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535376777	chr9:26013728-26013729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147152367	chr9:26013743-26013744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190454373	chr9:26013747-26013748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374845740	chr9:26013755-26013756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138904980	chr9:26013760-26013761	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26012600-26013400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:26012800-26013400	Enhancers	Hela-S3	cervix
3	chr9:26012800-26013600	Enhancers	NHDF-Ad	bronchial
4	chr9:26012800-26013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:26013000-26013400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:26013000-26013400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:26020400-26020800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:26020600-26025600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:26023600-26023800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:26023800-26025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:26025200-26026200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:26025200-26029200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:26025200-26030200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:26025400-26028800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr9:26025600-26025800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:26025600-26026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr9:26025600-26027000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:26025600-26027000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr9:26025600-26028200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:26025800-26027200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:26026000-26027200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr9:26026200-26027200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr9:26026400-26026600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:26026400-26027600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:26026800-26027400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:26027000-26028000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:26027000-26028200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:26027200-26027400	Enhancers	NHDF-Ad	bronchial
29	chr9:26027200-26029400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr9:26027200-26030000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:26027600-26028000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:26028000-26028200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:26028000-26028400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:26028200-26028400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr9:26028200-26029200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:26029200-26029400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:26029200-26030200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:26030200-26031200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:26030400-26030600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:26031200-26031400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:26033000-26034800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:26033400-26034600	Enhancers	NHDF-Ad	bronchial
43	chr9:26033600-26034600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:26038000-26040800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:26042000-26043400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:26043200-26044000	Enhancers	NHDF-Ad	bronchial
47	chr9:26043400-26043600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:26054000-26055200	Enhancers	HUVEC	blood vessel
49	chr9:26054000-26055600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:26054600-26055200	Enhancers	NH-A	brain

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