Variant report

Variant	esv3495897
Chromosome Location	chr9:118308074-118309729
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	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531781987	chr9:118308121-118308122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548709785	chr9:118308132-118308133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568429526	chr9:118308136-118308137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377687506	chr9:118308141-118308142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12376128	chr9:118308145-118308146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184243273	chr9:118308168-118308169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571158744	chr9:118308188-118308189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554786747	chr9:118308212-118308213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539635882	chr9:118308261-118308262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556764667	chr9:118308304-118308305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576564565	chr9:118308397-118308398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377444798	chr9:118308425-118308426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535140412	chr9:118308469-118308470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555061274	chr9:118308553-118308554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556115698	chr9:118308618-118308619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571681926	chr9:118308625-118308626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540655954	chr9:118308659-118308660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147576558	chr9:118308662-118308663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577913864	chr9:118308670-118308671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543353693	chr9:118308681-118308682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190687126	chr9:118308706-118308707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529115396	chr9:118308716-118308717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192417050	chr9:118308726-118308727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199550310	chr9:118308795-118308796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200976592	chr9:118308797-118308798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184538154	chr9:118308853-118308854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527670538	chr9:118308867-118308868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6478183	chr9:118308875-118308876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72757383	chr9:118308897-118308898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533628293	chr9:118308910-118308911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560092454	chr9:118308942-118308943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112723784	chr9:118309023-118309024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142054383	chr9:118309026-118309027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62576695	chr9:118309051-118309052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564143929	chr9:118309059-118309060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188907528	chr9:118309096-118309097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531414886	chr9:118309119-118309120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549834836	chr9:118309120-118309121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72757386	chr9:118309141-118309142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4631542	chr9:118309151-118309152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145906586	chr9:118309163-118309164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112087578	chr9:118309195-118309196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556994741	chr9:118309246-118309247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199823017	chr9:118309280-118309281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140127510	chr9:118309290-118309291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574170541	chr9:118309352-118309353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150261629	chr9:118309368-118309369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs118114991	chr9:118309369-118309370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181558422	chr9:118309392-118309393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531935277	chr9:118309395-118309396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118285400-118314600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:118306400-118309000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:118308600-118309200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:118308800-118309600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:118309000-118310000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr9:118309600-118311000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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