Variant report

Variant	nsv540087
Chromosome Location	chr9:22246764-22426267
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22310557..22311090-chr9:22452173..22453079,2	MCF-7	breast:
2	chr9:22383558..22386064-chr9:22393269..22395757,2	MCF-7	breast:
3	chr9:22402119..22404171-chr9:22444827..22446805,2	MCF-7	breast:
4	chr9:22343251..22345619-chr9:22373088..22374611,2	MCF-7	breast:
5	chr9:22383558..22386064-chr9:22393269..22395757,2	MCF-7	breast:
6	chr9:22237736..22240719-chr9:22245980..22248621,2	MCF-7	breast:
7	chr9:22308840..22311118-chr9:22450216..22453208,2	MCF-7	breast:
8	chr9:22340256..22342869-chr9:22344795..22348562,3	MCF-7	breast:
9	chr9:22387862..22390330-chr9:22390614..22392458,2	MCF-7	breast:
10	chr9:22342552..22344579-chr9:22390946..22393020,2	MCF-7	breast:
11	chr9:22242724..22244385-chr9:22244555..22246878,2	MCF-7	breast:
12	chr9:22341545..22344630-chr9:22445904..22448920,6	MCF-7	breast:
13	chr9:22307465..22309728-chr9:22452088..22453632,2	MCF-7	breast:
14	chr9:22342552..22344579-chr9:22390946..22393020,2	MCF-7	breast:
15	chr9:22341942..22344715-chr9:22446110..22447985,2	MCF-7	breast:
16	chr9:22388944..22390962-chr9:22393020..22395362,2	MCF-7	breast:
17	chr9:22340256..22342869-chr9:22344795..22348562,3	MCF-7	breast:
18	chr9:22382641..22384456-chr9:22445640..22448054,2	MCF-7	breast:
19	chr9:22117726..22119533-chr9:22245234..22247793,2	MCF-7	breast:
20	chr9:22343251..22345619-chr9:22373088..22374611,2	MCF-7	breast:
21	chr9:22274914..22277993-chr9:22280217..22281943,3	MCF-7	breast:
22	chr9:22347004..22349859-chr9:22359798..22362009,2	MCF-7	breast:
23	chr9:22304349..22312901-chr9:22445807..22450010,8	MCF-7	breast:
24	chr9:22274914..22277993-chr9:22280217..22281943,3	MCF-7	breast:
25	chr9:22258655..22261441-chr9:22267254..22270040,2	MCF-7	breast:
26	chr9:22354725..22356372-chr9:22357710..22359540,2	MCF-7	breast:
27	chr9:22347004..22349859-chr9:22359798..22362009,2	MCF-7	breast:
28	chr9:22388944..22390962-chr9:22393020..22395362,2	MCF-7	breast:
29	chr9:22387862..22390330-chr9:22390614..22392458,2	MCF-7	breast:
30	chr9:22307986..22308923-chr9:22452329..22453109,4	MCF-7	breast:
31	chr9:22332925..22335783-chr9:22341287..22343455,2	MCF-7	breast:
32	chr9:22354725..22356372-chr9:22357710..22359540,2	MCF-7	breast:
33	chr9:22332925..22335783-chr9:22341287..22343455,2	MCF-7	breast:
34	chr9:22302782..22305026-chr9:22452967..22455959,2	MCF-7	breast:
35	chr9:22258655..22261441-chr9:22267254..22270040,2	MCF-7	breast:
36	chr9:22306827..22310681-chr9:22446065..22451180,6	MCF-7	breast:
37	chr9:22332556..22334193-chr9:22445796..22447574,2	MCF-7	breast:
38	chr9:22307897..22308732-chr9:22452148..22452666,2	MCF-7	breast:
39	chr9:22307010..22307656-chr9:22452126..22452959,2	MCF-7	breast:
40	chr9:22306745..22307713-chr9:22451254..22452991,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000176399	chromatin interactions

Extended variants
information (count: 5656 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:5656 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1679022	chr9:22246794-22246795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10965302	chr9:22246831-22246832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530379848	chr9:22246835-22246836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370950330	chr9:22246836-22246837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373846381	chr9:22246842-22246843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570776597	chr9:22246868-22246869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146997261	chr9:22246927-22246928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112593790	chr9:22246933-22246934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74740733	chr9:22246934-22246935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138208858	chr9:22246942-22246943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553182409	chr9:22246970-22246971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536091039	chr9:22246979-22246980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78496650	chr9:22246986-22246987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575008312	chr9:22246996-22246997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190603352	chr9:22247048-22247049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117053376	chr9:22247060-22247061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72695312	chr9:22247076-22247077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182489988	chr9:22247097-22247098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141820690	chr9:22247120-22247121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578092720	chr9:22247122-22247123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150623135	chr9:22247128-22247129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545765744	chr9:22247188-22247189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370049648	chr9:22247228-22247229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74970653	chr9:22247236-22247237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571936916	chr9:22247237-22247238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187860689	chr9:22247296-22247297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191177822	chr9:22247299-22247300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182957998	chr9:22247313-22247314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561406390	chr9:22247346-22247347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188265965	chr9:22247351-22247352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533528811	chr9:22247355-22247356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193163521	chr9:22247389-22247390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs764394	chr9:22247395-22247396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114676323	chr9:22247419-22247420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545933282	chr9:22247421-22247422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564571930	chr9:22247427-22247428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528640294	chr9:22247519-22247520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138792276	chr9:22247544-22247545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113041964	chr9:22247566-22247567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549568554	chr9:22247580-22247581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534522104	chr9:22247604-22247605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146364433	chr9:22247605-22247606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377333872	chr9:22247608-22247609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558319637	chr9:22247668-22247669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545468670	chr9:22247696-22247697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370751379	chr9:22247697-22247698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571661840	chr9:22247759-22247760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139654129	chr9:22247763-22247764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552945816	chr9:22247765-22247766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144411298	chr9:22247799-22247800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:159)

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
Breast cancer	21858162	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
Glioblastoma multiforme	21569311	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
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Burkitt''s lymphoma	19759907	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22241400-22251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:22244800-22250600	Weak transcription	A549	lung
3	chr9:22250200-22253600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:22250600-22251400	ZNF genes & repeats	A549	lung
5	chr9:22250600-22251600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr9:22250800-22252200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:22251000-22252000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:22251400-22251600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:22251400-22253400	Weak transcription	A549	lung
10	chr9:22251600-22251800	ZNF genes & repeats	Aorta	Aorta
11	chr9:22252000-22254600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:22252200-22256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:22253400-22254200	Strong transcription	A549	lung
14	chr9:22253600-22254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:22253800-22256600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:22254200-22255200	Weak transcription	A549	lung
17	chr9:22254600-22255800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:22254800-22255600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:22255200-22256600	ZNF genes & repeats	NHEK	skin
20	chr9:22255200-22257200	ZNF genes & repeats	A549	lung
21	chr9:22255600-22256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:22255800-22256400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:22256400-22257000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:22256400-22257200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:22256400-22259200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:22256400-22259400	Enhancers	HMEC	breast
27	chr9:22256600-22257000	Flanking Active TSS	NHEK	skin
28	chr9:22256600-22259000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:22257000-22257600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:22257000-22257800	Enhancers	Hela-S3	cervix
31	chr9:22257000-22258200	Enhancers	Placenta	Placenta
32	chr9:22257000-22259200	Enhancers	NHEK	skin
33	chr9:22257200-22260200	Weak transcription	A549	lung
34	chr9:22257200-22261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:22257600-22258200	Enhancers	Esophagus	oesophagus
36	chr9:22257600-22259400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:22259000-22259400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:22259200-22263800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:22259400-22260200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:22259400-22261200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:22260200-22261200	Strong transcription	A549	lung
42	chr9:22260200-22261400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:22261200-22262800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:22261200-22265200	Weak transcription	A549	lung
45	chr9:22263800-22267000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:22265200-22265800	ZNF genes & repeats	A549	lung
47	chr9:22265800-22270800	Weak transcription	A549	lung
48	chr9:22266800-22267000	ZNF genes & repeats	Gastric	stomach
49	chr9:22267000-22273400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:22270800-22271400	Strong transcription	A549	lung

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