Variant report

Variant	esv3325763
Chromosome Location	chr9:136966531-136971629
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136955254..136956773-chr9:136964647..136966788,2	MCF-7	breast:
2	chr9:136967534..136969174-chr9:136971059..136973731,2	MCF-7	breast:
3	chr9:136967534..136969174-chr9:136971059..136973731,2	MCF-7	breast:
4	chr9:136608275..136608832-chr9:136966155..136966872,2	K562	blood:
5	chr9:136966895..136967395-chr9:137427987..137428542,2	K562	blood:
6	chr9:136968920..136970584-chr9:136990772..136992877,2	MCF-7	breast:
7	chr9:136934778..136936960-chr9:136965343..136968102,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR5-6	chr9:136968818-136968857	NONHSAT135374

No data

Extended variants
information (count: 170 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs138085301	chr9:136966570-136966571	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs10993933	chr9:136966593-136966594	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565915717	chr9:136966595-136966596	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs533392496	chr9:136966597-136966598	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs552038970	chr9:136966602-136966603	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61286787	chr9:136966618-136966619	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570852544	chr9:136966627-136966628	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537004563	chr9:136966650-136966651	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79027570	chr9:136966658-136966659	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373470272	chr9:136966681-136966682	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143863291	chr9:136966739-136966740	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148184064	chr9:136966778-136966779	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572129182	chr9:136966787-136966788	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147368402	chr9:136966795-136966796	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12348480	chr9:136966805-136966806	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35098522	chr9:136966832-136966833	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs140128589	chr9:136966838-136966839	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs575456725	chr9:136966842-136966843	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs368919843	chr9:136966849-136966850	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs543376703	chr9:136966901-136966902	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs561765895	chr9:136966931-136966932	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs529274077	chr9:136966939-136966940	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs541108118	chr9:136966951-136966952	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs566551186	chr9:136967003-136967004	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533572153	chr9:136967004-136967005	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543809880	chr9:136967017-136967018	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12342001	chr9:136967039-136967040	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs59330894	chr9:136967094-136967095	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397795943	chr9:136967096-136967097	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543009303	chr9:136967148-136967149	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531127551	chr9:136967155-136967156	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370400029	chr9:136967168-136967169	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567249347	chr9:136967176-136967177	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535449246	chr9:136967178-136967179	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555839947	chr9:136967189-136967190	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546713982	chr9:136967200-136967201	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150700733	chr9:136967225-136967226	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs190100809	chr9:136967265-136967266	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs139969813	chr9:136967292-136967293	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs575465294	chr9:136967317-136967318	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs73663198	chr9:136967381-136967382	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554474438	chr9:136967398-136967399	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs573691895	chr9:136967404-136967405	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541075619	chr9:136967410-136967411	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559753140	chr9:136967413-136967414	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182990447	chr9:136967432-136967433	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116264661	chr9:136967472-136967473	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563753378	chr9:136967473-136967474	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531156947	chr9:136967509-136967510	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187322499	chr9:136967527-136967528	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136953400-136968400	Weak transcription	Gastric	stomach
2	chr9:136964400-136966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:136965200-136966800	Bivalent Enhancer	HepG2	liver
4	chr9:136966600-136966800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr9:136966600-136967000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:136966600-136967000	Enhancers	Fetal Intestine Large	intestine
7	chr9:136966600-136967200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr9:136966800-136967200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:136966800-136967200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:136966800-136967200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr9:136966800-136967200	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr9:136966800-136967400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:136967200-136967400	Bivalent Enhancer	Hela-S3	cervix
14	chr9:136967200-136967400	Bivalent Enhancer	HepG2	liver
15	chr9:136967200-136967800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:136968400-136968600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:136968400-136969200	ZNF genes & repeats	Gastric	stomach
18	chr9:136969200-136969400	Weak transcription	Gastric	stomach
19	chr9:136969400-136969600	Enhancers	Gastric	stomach

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