Variant report

Variant	esv989178
Chromosome Location	chr9:116828925-116833556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116822066..116823998-chr9:116833040..116834650,2	MCF-7	breast:
2	chr9:116820042..116822386-chr9:116830008..116831532,2	K562	blood:

Extended variants
information (count: 177 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146436021	chr9:116829027-116829028	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537780746	chr9:116829078-116829079	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557644665	chr9:116829197-116829198	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574284938	chr9:116829219-116829220	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140782402	chr9:116829258-116829259	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553207368	chr9:116829262-116829263	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538789527	chr9:116829282-116829283	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149699814	chr9:116829336-116829337	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555785276	chr9:116829339-116829340	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145524857	chr9:116829340-116829341	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112118947	chr9:116829364-116829365	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543323526	chr9:116829379-116829380	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185537587	chr9:116829457-116829458	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572209537	chr9:116829465-116829466	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529078104	chr9:116829466-116829467	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10156468	chr9:116829468-116829469	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565723149	chr9:116829481-116829482	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570375545	chr9:116829514-116829515	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528219676	chr9:116829520-116829521	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201976600	chr9:116829539-116829540	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551178162	chr9:116829547-116829548	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371229012	chr9:116829687-116829688	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377517822	chr9:116829688-116829689	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372594442	chr9:116829693-116829694	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112270798	chr9:116829709-116829710	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577723610	chr9:116829736-116829737	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147917635	chr9:116829771-116829772	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12378445	chr9:116829780-116829781	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141910092	chr9:116829784-116829785	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536528217	chr9:116829827-116829828	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190548720	chr9:116829836-116829837	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113354863	chr9:116829913-116829914	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58154359	chr9:116829945-116829946	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73560310	chr9:116829967-116829968	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138332228	chr9:116829991-116829992	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181592537	chr9:116829995-116829996	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141829856	chr9:116829999-116830000	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544172616	chr9:116830002-116830003	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563259618	chr9:116830013-116830014	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529187514	chr9:116830048-116830049	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530499429	chr9:116830050-116830051	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150183621	chr9:116830060-116830061	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184647727	chr9:116830067-116830068	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77349136	chr9:116830072-116830073	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542346784	chr9:116830086-116830087	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559548796	chr9:116830087-116830088	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528231712	chr9:116830168-116830169	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149363899	chr9:116830218-116830219	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74899879	chr9:116830224-116830225	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530533427	chr9:116830252-116830253	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116822000-116832400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:116822600-116833400	Genic enhancers	HepG2	liver
3	chr9:116824600-116830600	Genic enhancers	Liver	Liver
4	chr9:116825600-116832000	Weak transcription	Fetal Intestine Small	intestine
5	chr9:116828600-116833400	Weak transcription	Pancreas	Pancrea
6	chr9:116830600-116831400	Weak transcription	Liver	Liver
7	chr9:116831400-116836200	Genic enhancers	Liver	Liver
8	chr9:116831800-116832000	Bivalent Enhancer	Ovary	ovary
9	chr9:116832000-116832200	Enhancers	Fetal Intestine Small	intestine
10	chr9:116832000-116832600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr9:116832200-116832600	Weak transcription	Fetal Intestine Small	intestine
12	chr9:116832400-116832800	Enhancers	Colonic Mucosa	Colon
13	chr9:116832400-116833000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:116832400-116833000	Enhancers	Fetal Intestine Large	intestine
15	chr9:116832400-116833000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr9:116832400-116835400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:116832400-116835400	Enhancers	Esophagus	oesophagus
18	chr9:116832600-116832800	Enhancers	Fetal Intestine Small	intestine
19	chr9:116832800-116833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:116832800-116833600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:116832800-116833600	Weak transcription	Fetal Intestine Small	intestine
22	chr9:116832800-116833800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:116833000-116833400	Weak transcription	Fetal Intestine Large	intestine
24	chr9:116833000-116833800	Enhancers	HMEC	breast
25	chr9:116833200-116833600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:116833200-116833600	Enhancers	NHEK	skin
27	chr9:116833200-116834000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:116833200-116834000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr9:116833200-116835400	Enhancers	Fetal Muscle Leg	muscle
30	chr9:116833400-116833800	Transcr. at gene 5' and 3'	HepG2	liver
31	chr9:116833400-116834800	Enhancers	Fetal Intestine Large	intestine
32	chr9:116833400-116835400	Enhancers	Pancreas	Pancrea
33	chr9:116833400-116835400	Enhancers	Right Ventricle	heart

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