Variant report

Variant	esv2753898
Chromosome Location	chr9:10251400-10276700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
2	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
3	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
4	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:

Extended variants
information (count: 1401 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1401 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148395499	chr9:10251400-10251401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79176480	chr9:10251411-10251412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199550633	chr9:10251413-10251414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1322147	chr9:10251430-10251431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374785081	chr9:10251443-10251444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62539731	chr9:10251460-10251461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185587544	chr9:10251472-10251473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547524215	chr9:10251486-10251487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1322148	chr9:10251492-10251493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs147144861	chr9:10251545-10251546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549690569	chr9:10251589-10251590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140560214	chr9:10251590-10251591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2498608	chr9:10251603-10251604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375950278	chr9:10251617-10251618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188114235	chr9:10251630-10251631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532316691	chr9:10251689-10251690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144525358	chr9:10251706-10251707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150768381	chr9:10251744-10251745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577712869	chr9:10251745-10251746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139170215	chr9:10251750-10251751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181009109	chr9:10251757-10251758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574151149	chr9:10251766-10251767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542955529	chr9:10251772-10251773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560046920	chr9:10251809-10251810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149792454	chr9:10251811-10251812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386732519	chr9:10251814-10251815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185370293	chr9:10251818-10251819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145779214	chr9:10251820-10251821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532873858	chr9:10251822-10251823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549816072	chr9:10251866-10251867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2498609	chr9:10251878-10251879	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148958768	chr9:10251901-10251902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548872463	chr9:10251962-10251963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565626828	chr9:10252002-10252003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12236941	chr9:10252022-10252023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10958977	chr9:10252064-10252065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144187019	chr9:10252078-10252079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188671276	chr9:10252081-10252082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543053062	chr9:10252099-10252100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146548249	chr9:10252101-10252102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75324781	chr9:10252137-10252138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141386313	chr9:10252149-10252150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573558466	chr9:10252152-10252153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552401870	chr9:10252159-10252160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10119756	chr9:10252182-10252183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34395736	chr9:10252203-10252204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113009216	chr9:10252204-10252205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397737113	chr9:10252205-10252206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577541154	chr9:10252206-10252207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375993667	chr9:10252228-10252229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10250400-10252000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:10250600-10251600	Weak transcription	Fetal Lung	lung
3	chr9:10251200-10251800	Enhancers	Fetal Heart	heart
4	chr9:10251200-10252400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:10251600-10251800	Enhancers	Fetal Lung	lung
6	chr9:10251600-10253000	Enhancers	Stomach Mucosa	stomach
7	chr9:10251800-10252200	Weak transcription	Fetal Lung	lung
8	chr9:10251800-10252600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:10251800-10254600	Weak transcription	Fetal Heart	heart
10	chr9:10252200-10252400	Enhancers	Fetal Lung	lung
11	chr9:10252400-10254400	Weak transcription	Fetal Lung	lung
12	chr9:10253000-10253400	Enhancers	Fetal Brain Male	brain
13	chr9:10253000-10254600	Weak transcription	Stomach Mucosa	stomach
14	chr9:10253400-10254600	Weak transcription	Fetal Brain Male	brain
15	chr9:10254400-10255000	Enhancers	Fetal Lung	lung
16	chr9:10254400-10255200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:10254600-10254800	Enhancers	Fetal Brain Female	brain
18	chr9:10254600-10255200	Enhancers	Stomach Mucosa	stomach
19	chr9:10254600-10255400	Enhancers	Fetal Heart	heart
20	chr9:10254800-10255000	Enhancers	Fetal Brain Male	brain
21	chr9:10255400-10255600	Enhancers	Fetal Brain Female	brain
22	chr9:10255400-10268600	Weak transcription	Fetal Heart	heart
23	chr9:10259800-10260400	Enhancers	Brain Substantia Nigra	brain
24	chr9:10259800-10263800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:10260000-10261400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:10260400-10260800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:10260400-10260800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:10260400-10260800	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:10263200-10264200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr9:10263800-10264000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:10263800-10264000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:10263800-10264200	ZNF genes & repeats	Pancreas	Pancrea
33	chr9:10264200-10271600	Weak transcription	Pancreas	Pancrea
34	chr9:10264600-10265000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:10264600-10266200	Enhancers	HUVEC	blood vessel
36	chr9:10264800-10265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:10264800-10265400	Enhancers	NHEK	skin
38	chr9:10264800-10265800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:10264800-10265800	Enhancers	NH-A	brain
40	chr9:10265000-10265600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:10265000-10265600	Enhancers	HMEC	breast
42	chr9:10265000-10265800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:10265000-10266000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:10265200-10265600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:10265200-10265800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:10265400-10268600	Weak transcription	NHEK	skin
47	chr9:10265600-10268400	Weak transcription	HMEC	breast
48	chr9:10265600-10269000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:10265800-10268600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:10265800-10268600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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