Variant report

Variant	esv3398203
Chromosome Location	chr9:110019231-110021629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:110007992..110013194-chr9:110021107..110025881,5	MCF-7	breast:
2	chr9:110021549..110024530-chr9:110031690..110034147,2	MCF-7	breast:
3	chr9:110015966..110018595-chr9:110020108..110022273,3	MCF-7	breast:
4	chr9:110017405..110019153-chr9:110019371..110020959,2	MCF-7	breast:
5	chr9:110021032..110023010-chr9:110046369..110047881,2	MCF-7	breast:
6	chr9:110021248..110023658-chr9:110046181..110048340,2	K562	blood:

Variant related genes	Relation type
ENSG00000119318	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55959626	chr9:110020132-110020133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547864827	chr9:110020154-110020155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547150340	chr9:110020207-110020208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572319146	chr9:110020247-110020248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561390994	chr9:110020274-110020275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565457983	chr9:110020277-110020278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576991411	chr9:110020305-110020306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545908104	chr9:110020343-110020344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568700268	chr9:110020364-110020365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4250429	chr9:110020417-110020418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28545171	chr9:110020438-110020439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28433544	chr9:110020525-110020526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28687405	chr9:110020562-110020563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28646176	chr9:110020615-110020616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28681278	chr9:110020638-110020639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569303142	chr9:110020647-110020648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537327991	chr9:110020650-110020651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555667267	chr9:110020654-110020655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28472873	chr9:110020668-110020669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28744681	chr9:110020676-110020677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28657386	chr9:110020704-110020705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567573090	chr9:110020714-110020715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146668217	chr9:110020770-110020771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140369170	chr9:110020782-110020783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187729405	chr9:110020819-110020820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200356337	chr9:110020822-110020823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374689948	chr9:110020846-110020847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201219933	chr9:110020848-110020849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200844857	chr9:110020849-110020850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115824521	chr9:110020862-110020863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544749772	chr9:110020876-110020877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535991681	chr9:110020940-110020941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556515646	chr9:110020998-110020999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576579471	chr9:110021006-110021007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574926069	chr9:110021019-110021020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376030685	chr9:110021031-110021032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75789683	chr9:110021077-110021078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537540305	chr9:110021148-110021149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192691169	chr9:110021159-110021160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183575602	chr9:110021224-110021225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35929272	chr9:110021249-110021250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367659854	chr9:110021250-110021251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188215676	chr9:110021316-110021317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565520833	chr9:110021391-110021392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532630791	chr9:110021410-110021411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551129783	chr9:110021438-110021439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs57199879	chr9:110021479-110021480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144160960	chr9:110021487-110021488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192854808	chr9:110021557-110021558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372048260	chr9:110021565-110021566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110007000-110022600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:110012400-110022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:110014800-110021400	Weak transcription	Adipose Nuclei	Adipose
4	chr9:110014800-110022800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:110015400-110022600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:110017200-110022600	Weak transcription	HSMMtube	muscle
7	chr9:110018200-110022400	Weak transcription	HepG2	liver
8	chr9:110020800-110022600	Weak transcription	NHDF-Ad	bronchial
9	chr9:110021000-110023800	Enhancers	Liver	Liver
10	chr9:110021400-110021600	Enhancers	Adipose Nuclei	Adipose
11	chr9:110021400-110022600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:110021400-110024000	Enhancers	Primary B cells from peripheral blood	blood
13	chr9:110021600-110022600	Weak transcription	Adipose Nuclei	Adipose

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