Variant report

Variant	esv2762782
Chromosome Location	chr9:3301744-3302446
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	chr9:3296136..3298871-chr9:3302065..3304976,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7025328	chr9:3301744-3301745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34089430	chr9:3301759-3301760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370178769	chr9:3301778-3301779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374515389	chr9:3301788-3301789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72699041	chr9:3301801-3301802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138895104	chr9:3301803-3301804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191495923	chr9:3301804-3301805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370877041	chr9:3301805-3301806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564000902	chr9:3301806-3301807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532741679	chr9:3301814-3301815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371934045	chr9:3301826-3301827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78571456	chr9:3301868-3301869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2986687	chr9:3301887-3301888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182400906	chr9:3301928-3301929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148948484	chr9:3301939-3301940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377258415	chr9:3301941-3301942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2986688	chr9:3301974-3301975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74502896	chr9:3301983-3301984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550456241	chr9:3301998-3301999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543695547	chr9:3302018-3302019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17715317	chr9:3302019-3302020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574299027	chr9:3302036-3302037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539731167	chr9:3302076-3302077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75180722	chr9:3302101-3302102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376387258	chr9:3302138-3302139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77020939	chr9:3302139-3302140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114340349	chr9:3302153-3302154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142793965	chr9:3302183-3302184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146272409	chr9:3302222-3302223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557399771	chr9:3302273-3302274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78774901	chr9:3302296-3302297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546497958	chr9:3302322-3302323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2986689	chr9:3302332-3302333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573415975	chr9:3302346-3302347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2991300	chr9:3302356-3302357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138087637	chr9:3302358-3302359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141788242	chr9:3302360-3302361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111511991	chr9:3302374-3302375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371834702	chr9:3302385-3302386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563744300	chr9:3302392-3302393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533052615	chr9:3302393-3302394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2920372	chr9:3302401-3302402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115000390	chr9:3302419-3302420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116154007	chr9:3302432-3302433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375793170	chr9:3302433-3302434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3244200-3338400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:3265600-3332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr9:3272000-3302800	Weak transcription	Ovary	ovary
4	chr9:3277400-3310600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:3277400-3337400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:3286600-3307000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:3288000-3305600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:3288200-3309000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:3288200-3378400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:3288600-3318800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:3290800-3309200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:3291400-3338600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:3291800-3318800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr9:3293200-3329600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:3293400-3312800	Weak transcription	Primary T cells from cord blood	blood
16	chr9:3293400-3312800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr9:3293400-3318800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:3293600-3352600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:3294800-3321200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:3297000-3312600	Weak transcription	Aorta	Aorta
21	chr9:3300200-3308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:3300200-3320000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:3300400-3307000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:3300800-3307200	Weak transcription	Primary B cells from cord blood	blood
25	chr9:3301400-3302400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:3301400-3303800	Weak transcription	GM12878-XiMat	blood
27	chr9:3302000-3302400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:3302400-3323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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