Variant report

Variant	esv3481760
Chromosome Location	chr9:136690631-136695429
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:136693193..136695419-chr9:136705719..136708043,2	MCF-7	breast:
2	chr9:136686248..136688046-chr9:136689663..136693225,3	K562	blood:
3	chr9:136687210..136690877-chr9:136692524..136697595,4	MCF-7	breast:
4	chr9:136695295..136698632-chr9:136737582..136741114,3	MCF-7	breast:
5	chr9:136689629..136691497-chr9:136855845..136857956,2	MCF-7	breast:
6	chr9:136687210..136690877-chr9:136692524..136697595,4	MCF-7	breast:
7	chr9:136689578..136693594-chr9:136695126..136697537,4	K562	blood:
8	chr9:136688132..136689983-chr9:136690497..136693313,2	MCF-7	breast:
9	chr9:136689578..136693594-chr9:136695126..136697537,4	K562	blood:
10	chr9:136675111..136676844-chr9:136688260..136691253,2	K562	blood:
11	chr9:136694438..136696917-chr9:136696926..136699565,2	MCF-7	breast:
12	chr9:136694028..136696242-chr9:136700979..136702982,2	K562	blood:
13	chr9:136694512..136703388-chr9:136855005..136859658,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	chromatin interactions

Extended variants
information (count: 372 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543603901	chr9:136690634-136690635	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561885212	chr9:136690635-136690636	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138987711	chr9:136690639-136690640	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538656128	chr9:136690643-136690644	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144047881	chr9:136690680-136690681	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566089025	chr9:136690681-136690682	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183393872	chr9:136690698-136690699	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146444248	chr9:136690709-136690710	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111710446	chr9:136690757-136690758	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113800727	chr9:136690804-136690805	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538086042	chr9:136690822-136690823	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556385273	chr9:136690826-136690827	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568196498	chr9:136690832-136690833	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2428094	chr9:136690857-136690858	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553551554	chr9:136690904-136690905	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs55776501	chr9:136690922-136690923	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545428791	chr9:136690937-136690938	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187713886	chr9:136690942-136690943	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7851180	chr9:136690968-136690969	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560353914	chr9:136690974-136690975	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs17663527	chr9:136690989-136690990	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545149679	chr9:136691023-136691024	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7857083	chr9:136691033-136691034	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541533113	chr9:136691062-136691063	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559548774	chr9:136691064-136691065	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112469354	chr9:136691121-136691122	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551482451	chr9:136691124-136691125	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145806781	chr9:136691125-136691126	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2428095	chr9:136691145-136691146	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149018441	chr9:136691147-136691148	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192366954	chr9:136691154-136691155	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568277847	chr9:136691174-136691175	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79531792	chr9:136691190-136691191	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs151038482	chr9:136691210-136691211	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565633440	chr9:136691230-136691231	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539459380	chr9:136691241-136691242	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557312087	chr9:136691244-136691245	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576353878	chr9:136691262-136691263	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537372691	chr9:136691338-136691339	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555608830	chr9:136691395-136691396	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182278833	chr9:136691402-136691403	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541221921	chr9:136691403-136691404	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559846777	chr9:136691449-136691450	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs578028988	chr9:136691481-136691482	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142323723	chr9:136691485-136691486	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12554082	chr9:136691506-136691507	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2428096	chr9:136691557-136691558	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550107954	chr9:136691558-136691559	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs561916337	chr9:136691559-136691560	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs139169384	chr9:136691614-136691615	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136658600-136691400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:136658800-136705400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:136659000-136702200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:136661400-136693800	Weak transcription	HMEC	breast
5	chr9:136669000-136691200	Weak transcription	NH-A	brain
6	chr9:136670000-136692600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:136673200-136705000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:136674600-136699000	Weak transcription	Aorta	Aorta
9	chr9:136675200-136728400	Weak transcription	Esophagus	oesophagus
10	chr9:136675400-136691600	Weak transcription	Lung	lung
11	chr9:136675400-136703200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:136675400-136709400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:136675600-136698000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:136675600-136704800	Weak transcription	Adipose Nuclei	Adipose
15	chr9:136676000-136699800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:136677000-136705000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:136679200-136696800	Weak transcription	Gastric	stomach
18	chr9:136679800-136691600	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:136680000-136696800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:136680200-136691200	Weak transcription	Fetal Brain Female	brain
21	chr9:136680200-136691400	Weak transcription	Right Ventricle	heart
22	chr9:136680200-136691800	Weak transcription	Right Atrium	heart
23	chr9:136680200-136693600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:136680200-136693800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:136681400-136690800	Weak transcription	Fetal Lung	lung
26	chr9:136682200-136692400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:136682200-136701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:136683800-136691000	Weak transcription	HSMM	muscle
29	chr9:136683800-136705000	Weak transcription	NHDF-Ad	bronchial
30	chr9:136684000-136694400	Weak transcription	Hela-S3	cervix
31	chr9:136684200-136690800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:136684200-136691200	Strong transcription	Fetal Intestine Small	intestine
33	chr9:136684200-136696800	Weak transcription	Osteobl	bone
34	chr9:136684200-136704800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:136684600-136691600	Weak transcription	Brain Substantia Nigra	brain
36	chr9:136686000-136709600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr9:136686200-136692200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:136686600-136690800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:136686600-136690800	Weak transcription	NHLF	lung
40	chr9:136686600-136692200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:136686600-136705000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:136686800-136692200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:136687000-136692000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:136687000-136692200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:136687000-136692200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr9:136687000-136697000	Weak transcription	Pancreas	Pancrea
47	chr9:136687400-136692200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr9:136687600-136691000	Strong transcription	Fetal Stomach	stomach
49	chr9:136687600-136691400	Weak transcription	Fetal Brain Male	brain
50	chr9:136687600-136705000	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links