Variant report

Variant	esv2759666
Chromosome Location	chr9:10188450-10370398
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:10366359..10367238-chr9:11319480..11320059,2	MCF-7	breast:
2	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
3	chr9:10365979..10366914-chr9:12329143..12329893,2	MCF-7	breast:
4	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
5	chr9:10194645..10196647-chr9:10198778..10200840,2	K562	blood:
6	chr9:10194645..10196647-chr9:10198778..10200840,2	K562	blood:
7	chr9:10195419..10198358-chr9:10209955..10212738,2	K562	blood:
8	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:
9	chr18:19024164..19025016-chr9:10325801..10326461,2	MCF-7	breast:
10	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
11	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
12	chr9:10195419..10198358-chr9:10209955..10212738,2	K562	blood:
13	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
14	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:
15	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:

No data

Extended variants
information (count: 5528 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:5528 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34055137	chr9:10188457-10188458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548346353	chr9:10188470-10188471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568158065	chr9:10188475-10188476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78913271	chr9:10188480-10188481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10756007	chr9:10188496-10188497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34937299	chr9:10188514-10188515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575426057	chr9:10188535-10188536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73641871	chr9:10188546-10188547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557996980	chr9:10188569-10188570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113342918	chr9:10188571-10188572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530201159	chr9:10188575-10188576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35140958	chr9:10188587-10188588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76420285	chr9:10188588-10188589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139391648	chr9:10188600-10188601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556024132	chr9:10188651-10188652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150066981	chr9:10188667-10188668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535451804	chr9:10188674-10188675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562209292	chr9:10188689-10188690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555441926	chr9:10188694-10188695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572461404	chr9:10188698-10188699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191124220	chr9:10188725-10188726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73641872	chr9:10188746-10188747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs578095866	chr9:10188781-10188782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182382579	chr9:10188815-10188816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79381208	chr9:10188827-10188828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531382059	chr9:10188830-10188831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57787227	chr9:10188835-10188836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561776558	chr9:10188855-10188856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527346558	chr9:10188857-10188858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543607000	chr9:10188864-10188865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547153587	chr9:10188869-10188870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148772305	chr9:10188887-10188888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570659395	chr9:10188910-10188911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539247507	chr9:10188927-10188928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549708302	chr9:10188956-10188957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569565631	chr9:10188976-10188977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535463731	chr9:10188978-10188979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143262513	chr9:10188989-10188990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563956718	chr9:10188991-10188992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187053406	chr9:10189010-10189011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535149358	chr9:10189028-10189029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146710465	chr9:10189055-10189056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568619486	chr9:10189056-10189057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140224110	chr9:10189137-10189138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192042628	chr9:10189162-10189163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145284402	chr9:10189173-10189174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574344190	chr9:10189185-10189186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541864150	chr9:10189210-10189211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183039972	chr9:10189213-10189214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573648350	chr9:10189218-10189219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10187000-10189400	Weak transcription	Fetal Heart	heart
2	chr9:10189400-10189600	Enhancers	Fetal Heart	heart
3	chr9:10191400-10191600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr9:10191800-10193000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:10192600-10193800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:10192800-10193400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:10193000-10193800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:10196600-10198600	Enhancers	Fetal Heart	heart
9	chr9:10196800-10198600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:10198200-10198600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:10198600-10208000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:10203000-10203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:10203000-10203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:10203200-10203600	Enhancers	Primary B cells from peripheral blood	blood
15	chr9:10203400-10203800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr9:10206200-10206400	Enhancers	Fetal Heart	heart
17	chr9:10206400-10207000	Weak transcription	Fetal Heart	heart
18	chr9:10207000-10207200	Enhancers	Fetal Heart	heart
19	chr9:10207800-10208000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr9:10207800-10208000	Weak transcription	Fetal Heart	heart
21	chr9:10207800-10208800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr9:10207800-10209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr9:10207800-10209200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr9:10208000-10208200	Active TSS	Primary B cells from cord blood	blood
25	chr9:10208000-10208400	Active TSS	Fetal Intestine Small	intestine
26	chr9:10208000-10208600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr9:10208000-10208800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr9:10208000-10208800	Active TSS	Primary B cells from peripheral blood	blood
29	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:10208000-10208800	Active TSS	Adipose Nuclei	Adipose
32	chr9:10208000-10208800	Active TSS	Colon Smooth Muscle	Colon
33	chr9:10208000-10208800	Active TSS	Fetal Brain Female	brain
34	chr9:10208000-10208800	Active TSS	Fetal Kidney	kidney
35	chr9:10208000-10208800	Active TSS	Fetal Lung	lung
36	chr9:10208000-10208800	Active TSS	Fetal Stomach	stomach
37	chr9:10208000-10208800	Active TSS	Right Ventricle	heart
38	chr9:10208000-10208800	Active TSS	A549	lung
39	chr9:10208000-10208800	Active TSS	HUVEC	blood vessel
40	chr9:10208000-10208800	Active TSS	NH-A	brain
41	chr9:10208000-10209000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr9:10208000-10209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr9:10208000-10209000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:10208000-10209000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:10208000-10209000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:10208000-10209000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:10208000-10209000	Active TSS	Liver	Liver
48	chr9:10208000-10209000	Active TSS	Brain Hippocampus Middle	brain
49	chr9:10208000-10209000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr9:10208000-10209000	Active TSS	Duodenum Smooth Muscle	Duodenum

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