Variant report

Variant	esv3413335
Chromosome Location	chr9:21980202-21982200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 206 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77574661	chr9:21980225-21980226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542396259	chr9:21980226-21980227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553196272	chr9:21980237-21980238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371931528	chr9:21980313-21980314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193213173	chr9:21980427-21980428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140664092	chr9:21980435-21980436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182584494	chr9:21980498-21980499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368696133	chr9:21980507-21980508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541860114	chr9:21980543-21980544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555510532	chr9:21980579-21980580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575400435	chr9:21980581-21980582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112173569	chr9:21980601-21980602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544866849	chr9:21980733-21980734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3731227	chr9:21980744-21980745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578222902	chr9:21980748-21980749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540587640	chr9:21980752-21980753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560812268	chr9:21980755-21980756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3731226	chr9:21980792-21980793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375266357	chr9:21980833-21980834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529276819	chr9:21980855-21980856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200227222	chr9:21980863-21980864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542575480	chr9:21980871-21980872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184759084	chr9:21980897-21980898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531668807	chr9:21980899-21980900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534789399	chr9:21980900-21980901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550405015	chr9:21980902-21980903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576086402	chr9:21980906-21980907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190272766	chr9:21980916-21980917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13297747	chr9:21980941-21980942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7874405	chr9:21980944-21980945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531944977	chr9:21980953-21980954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs36168473	chr9:21980970-21980971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373665640	chr9:21980989-21980990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375048311	chr9:21980991-21980992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562214260	chr9:21980992-21980993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368965186	chr9:21981006-21981007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71216121	chr9:21981009-21981010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150277060	chr9:21981018-21981019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368242892	chr9:21981019-21981020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372482884	chr9:21981020-21981021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376095781	chr9:21981023-21981024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13302595	chr9:21981034-21981035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199692945	chr9:21981038-21981039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13301751	chr9:21981039-21981040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377553393	chr9:21981040-21981041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200671436	chr9:21981041-21981042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58876895	chr9:21981052-21981053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375235494	chr9:21981055-21981056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546601726	chr9:21981056-21981057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368631762	chr9:21981057-21981058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:206)

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
Glioblastoma multiforme	21525872	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	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
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung adenocarcinoma	17982442	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	21272361	CNVD
Acute myeloid leukemia	21251322	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	19651600	CNVD
Gastric cancer	22315472	CNVD
Pancreatic cancer	21811562	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Cancer	17440616	CNVD
Leukemia	21670474	CNVD
Lung cancer	21512611	CNVD
Prostate cancer	19363497	CNVD
Renal cell carcinoma	21228928	CNVD
T-cell acute lymphoblastic leukemia	16270038	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Cancer	21278246	CNVD
Melanoma	19011513	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Lung cancer	17440070	CNVD
Melanoma	17440070	CNVD
Pancreas cancer	17440070	CNVD
Neuroblastoma	19638189	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Malignant melanoma	17260012	CNVD
Acute myeloid leukemia	21518781	CNVD
Esophageal cancer	21518781	CNVD
Follicular lymphoma	21518781	CNVD
Glioblastoma multiforme	21518781	CNVD
Mantle cell lymphoma	21518781	CNVD
Neuroblastoma	21518781	CNVD
Ovarian cancer	21518781	CNVD
pediatric acute lymphoblastic leukemia	21518781	CNVD
Colorectal cancer	21518781	CNVD
CNS lymphoma	21518781	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Lung adenocarcinoma	22272264	CNVD
Neuroblastoma	22034077	CNVD
Glioblastoma multiforme	21713760	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21977400-21984200	Enhancers	Dnd41	blood
2	chr9:21979400-21982800	Weak transcription	Hela-S3	cervix
3	chr9:21980200-21981200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:21981200-21982000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:21981600-21982200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chr9:21981800-21982000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr9:21981800-21982000	Bivalent/Poised TSS	Right Atrium	heart
8	chr9:21982000-21984200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr9:21982000-21986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:21982200-21982800	Enhancers	Monocytes-CD14+_RO01746	blood

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