Variant report

Variant	esv3416876
Chromosome Location	chr9:139854131-139856229
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:139855888..139859011-chr9:139864515..139866807,3	MCF-7	breast:
2	chr9:139687375..139689603-chr9:139852507..139855187,2	MCF-7	breast:
3	chr9:139851916..139854622-chr9:139944503..139947387,2	K562	blood:
4	chr9:139846781..139851560-chr9:139853266..139856441,7	MCF-7	breast:
5	chr9:139845596..139853954-chr9:139854688..139861084,10	K562	blood:
6	chr9:139620425..139622539-chr9:139854301..139855905,2	MCF-7	breast:
7	chr9:139855524..139858037-chr9:139914599..139917753,3	K562	blood:
8	chr9:139842595..139844508-chr9:139854153..139855893,2	MCF-7	breast:
9	chr9:139839439..139840995-chr9:139854089..139856073,2	K562	blood:
10	chr9:139856034..139858765-chr9:139888330..139891492,3	MCF-7	breast:
11	chr9:139841586..139844686-chr9:139854675..139858745,4	MCF-7	breast:
12	chr9:139836535..139839308-chr9:139856010..139858996,3	MCF-7	breast:
13	chr9:139847114..139849036-chr9:139855937..139858825,2	MCF-7	breast:
14	chr9:139855955..139858954-chr9:139887799..139890785,4	MCF-7	breast:
15	chr9:139855991..139858904-chr9:139871046..139873935,4	K562	blood:
16	chr9:139854133..139855882-chr9:139858175..139860493,2	MCF-7	breast:
17	chr9:139853786..139856538-chr9:139857353..139861977,5	K562	blood:
18	chr9:139854252..139857118-chr9:139869930..139871811,2	MCF-7	breast:
19	chr9:139852373..139854470-chr9:139885232..139887782,2	MCF-7	breast:
20	chr9:139854671..139856508-chr9:139856850..139859518,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000148362	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000236394	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000184925	chromatin interactions
ENSG00000159069	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113500575	chr9:139854131-139854132	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs374570486	chr9:139854136-139854137	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs148526799	chr9:139854137-139854138	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs142815507	chr9:139854141-139854142	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs151026404	chr9:139854142-139854143	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs564829687	chr9:139854166-139854167	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs368052781	chr9:139854167-139854168	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs372231978	chr9:139854192-139854193	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs139771670	chr9:139854210-139854211	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs145322503	chr9:139854214-139854215	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs147638370	chr9:139854229-139854230	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs13294373	chr9:139854256-139854257	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs571510931	chr9:139854317-139854318	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs75601803	chr9:139854318-139854319	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs142202584	chr9:139854404-139854405	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs368994268	chr9:139854414-139854415	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs536712498	chr9:139854473-139854474	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs553413023	chr9:139854482-139854483	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs573382040	chr9:139854509-139854510	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs188036295	chr9:139854535-139854536	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs559028850	chr9:139854545-139854546	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs74332472	chr9:139854546-139854547	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs111239671	chr9:139854561-139854562	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs543017910	chr9:139854586-139854587	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs371401379	chr9:139854591-139854592	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs562917105	chr9:139854608-139854609	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs528970974	chr9:139854630-139854631	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs542386379	chr9:139854640-139854641	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs559395683	chr9:139854696-139854697	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs117743437	chr9:139854697-139854698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs370980570	chr9:139854717-139854718	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs10870150	chr9:139854792-139854793	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs565179382	chr9:139854822-139854823	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs530795913	chr9:139854824-139854825	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575403585	chr9:139854827-139854828	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs191782212	chr9:139854849-139854850	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs200454667	chr9:139854893-139854894	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs13302464	chr9:139854896-139854897	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs551007353	chr9:139854898-139854899	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs71385789	chr9:139854903-139854904	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs567694111	chr9:139854941-139854942	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs536629062	chr9:139854960-139854961	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs113892725	chr9:139854984-139854985	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs112334403	chr9:139854986-139854987	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs546828606	chr9:139854997-139854998	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs148046018	chr9:139855000-139855001	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs566948854	chr9:139855005-139855006	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs372625071	chr9:139855054-139855055	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs538871225	chr9:139855055-139855056	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs11145944	chr9:139855098-139855099	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Urothelial carcinoma	21177765	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	20435627	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
Breast cancer	17603634	CNVD
Oral cancer	21386901	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
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
Acute lymphoblastic leukemia	21248843	CNVD
Hepatocellular carcinoma	22174799	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
Mantle cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
Epilepsy	22083797	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Autism	22495309	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139845200-139860200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:139845200-139860400	Weak transcription	Right Atrium	heart
3	chr9:139845400-139855400	Weak transcription	Gastric	stomach
4	chr9:139845400-139860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:139846200-139860200	Weak transcription	Liver	Liver
6	chr9:139847800-139855600	Weak transcription	Right Ventricle	heart
7	chr9:139848200-139857400	Weak transcription	Fetal Heart	heart
8	chr9:139851000-139858600	Weak transcription	Fetal Intestine Small	intestine
9	chr9:139852000-139862000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:139852200-139857600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr9:139852200-139860200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr9:139852400-139856200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr9:139852400-139858200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr9:139852400-139860200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:139852600-139856400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr9:139852600-139857600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr9:139852800-139858200	Enhancers	Thymus	Thymus
18	chr9:139853000-139854600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr9:139853000-139855800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:139853000-139860200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:139853200-139856800	Enhancers	Fetal Muscle Leg	muscle
22	chr9:139853200-139860600	Enhancers	Fetal Thymus	thymus
23	chr9:139853400-139854200	Active TSS	Spleen	Spleen
24	chr9:139853400-139854600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr9:139853400-139855800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:139853600-139854200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:139853600-139856400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:139853800-139854400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:139853800-139854400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:139853800-139855400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr9:139853800-139855400	Enhancers	Fetal Muscle Trunk	muscle
32	chr9:139853800-139856400	Enhancers	HSMM	muscle
33	chr9:139853800-139858400	Enhancers	HSMMtube	muscle
34	chr9:139854000-139854200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:139854000-139854200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:139854000-139854200	Enhancers	Esophagus	oesophagus
37	chr9:139854000-139854200	Enhancers	Pancreas	Pancrea
38	chr9:139854000-139854400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:139854000-139854400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:139854000-139855400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:139854000-139856000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:139854200-139854400	Enhancers	Stomach Smooth Muscle	stomach
43	chr9:139854200-139855200	Weak transcription	Spleen	Spleen
44	chr9:139854200-139855400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr9:139854200-139855600	Weak transcription	Esophagus	oesophagus
46	chr9:139854200-139856000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:139854400-139854600	Enhancers	Lung	lung
48	chr9:139854400-139854600	Enhancers	HMEC	breast
49	chr9:139854400-139855400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:139854400-139855600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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