Variant report

Variant	esv3437499
Chromosome Location	chr9:95740231-95741729
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	chr9:95739140..95740868-chr9:95765712..95767872,2	MCF-7	breast:
2	chr9:95739197..95741391-chr9:95747258..95749743,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191937293	chr9:95740232-95740233	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538348685	chr9:95740290-95740291	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562923960	chr9:95740291-95740292	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578093827	chr9:95740292-95740293	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556783496	chr9:95740293-95740294	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545505312	chr9:95740300-95740301	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145015046	chr9:95740331-95740332	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528294589	chr9:95740334-95740335	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12554591	chr9:95740351-95740352	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58971964	chr9:95740383-95740384	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561791476	chr9:95740433-95740434	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529200469	chr9:95740449-95740450	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550275987	chr9:95740496-95740497	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376141875	chr9:95740564-95740565	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568491828	chr9:95740587-95740588	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539080362	chr9:95740588-95740589	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551051567	chr9:95740644-95740645	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13283879	chr9:95740692-95740693	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10821049	chr9:95740772-95740773	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534094397	chr9:95740879-95740880	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10992562	chr9:95740896-95740897	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142092722	chr9:95740960-95740961	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556620735	chr9:95741035-95741036	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs578064833	chr9:95741038-95741039	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs142580787	chr9:95741049-95741050	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545468196	chr9:95741270-95741271	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs199971812	chr9:95741281-95741282	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs373593264	chr9:95741394-95741395	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552073288	chr9:95741401-95741402	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs375025193	chr9:95741403-95741404	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs151173361	chr9:95741458-95741459	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140536309	chr9:95741602-95741603	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4744160	chr9:95741606-95741607	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372077980	chr9:95741622-95741623	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144430938	chr9:95741649-95741650	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550836039	chr9:95741660-95741661	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370675416	chr9:95741703-95741704	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95728800-95740600	Weak transcription	Small Intestine	intestine
2	chr9:95729000-95741400	Weak transcription	Right Ventricle	heart
3	chr9:95732000-95741200	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:95733400-95741400	Weak transcription	Fetal Brain Female	brain
5	chr9:95733400-95742000	Weak transcription	Fetal Brain Male	brain
6	chr9:95735400-95752600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr9:95735800-95740400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:95735800-95742200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr9:95736000-95741600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:95736200-95740400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr9:95736200-95740400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr9:95736600-95740400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr9:95736800-95740400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr9:95736800-95743200	Weak transcription	Stomach Mucosa	stomach
15	chr9:95737200-95740400	Strong transcription	Brain Germinal Matrix	brain
16	chr9:95737800-95741200	Weak transcription	Adipose Nuclei	Adipose
17	chr9:95738200-95740400	Genic enhancers	Monocytes-CD14+_RO01746	blood
18	chr9:95739000-95740400	Genic enhancers	Primary B cells from cord blood	blood
19	chr9:95739000-95740400	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr9:95739000-95743800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
21	chr9:95739400-95742400	Weak transcription	Fetal Intestine Large	intestine
22	chr9:95739600-95740600	Genic enhancers	Fetal Thymus	thymus
23	chr9:95739600-95740800	Weak transcription	Colonic Mucosa	Colon
24	chr9:95739600-95743000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr9:95739800-95741400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:95739800-95741400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr9:95739800-95742400	Weak transcription	Placenta	Placenta
28	chr9:95740000-95741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:95740000-95741800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:95740000-95742200	Weak transcription	Fetal Intestine Small	intestine
31	chr9:95740000-95754800	Weak transcription	Gastric	stomach
32	chr9:95740000-95754800	Weak transcription	Pancreas	Pancrea
33	chr9:95740200-95741200	Enhancers	Primary T cells from cord blood	blood
34	chr9:95740200-95741200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr9:95740200-95741600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:95740200-95741600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:95740200-95741600	Weak transcription	Dnd41	blood
38	chr9:95740200-95742000	Weak transcription	Spleen	Spleen
39	chr9:95740200-95742400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr9:95740200-95742400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:95740200-95742400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr9:95740200-95742400	Weak transcription	GM12878-XiMat	blood
43	chr9:95740200-95743000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:95740200-95743200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr9:95740200-95744400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr9:95740200-95745200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:95740200-95746200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:95740200-95746200	Weak transcription	Thymus	Thymus
49	chr9:95740200-95750000	Weak transcription	Esophagus	oesophagus
50	chr9:95740200-95750600	Weak transcription	Lung	lung

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