Variant report

Variant	esv3325643
Chromosome Location	chr9:17971001-17990856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374311420	chr9:17974602-17974603	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs145582215	chr9:17974606-17974607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538388742	chr9:17974610-17974611	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553821028	chr9:17974625-17974626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113326953	chr9:17974666-17974667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542414252	chr9:17974712-17974713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187082134	chr9:17974714-17974715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11792952	chr9:17974719-17974720	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543282777	chr9:17974732-17974733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191678675	chr9:17974743-17974744	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543042789	chr9:17974775-17974776	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545220952	chr9:17974776-17974777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560640963	chr9:17974786-17974787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148734261	chr9:17974790-17974791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs111578271	chr9:17974830-17974831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11792938	chr9:17974835-17974836	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs386733254	chr9:17974878-17974879	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113231798	chr9:17974879-17974880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11788965	chr9:17974880-17974881	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187377429	chr9:17974901-17974902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571663509	chr9:17974933-17974934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs538623312	chr9:17974939-17974940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547030976	chr9:17974972-17974973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565444948	chr9:17974975-17974976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs11788983	chr9:17974979-17974980	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532581416	chr9:17975000-17975001	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554361996	chr9:17975007-17975008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74498918	chr9:17975052-17975053	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs192903439	chr9:17975061-17975062	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs56250788	chr9:17975075-17975076	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs386733255	chr9:17975093-17975094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs2811814	chr9:17975094-17975095	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151235746	chr9:17975106-17975107	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545396956	chr9:17975127-17975128	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560252917	chr9:17975147-17975148	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552124753	chr9:17975166-17975167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553980667	chr9:17985625-17985626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144441647	chr9:17985655-17985656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536458665	chr9:17985661-17985662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186572515	chr9:17985681-17985682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190489013	chr9:17985682-17985683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367586724	chr9:17985699-17985700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183029588	chr9:17985719-17985720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7869039	chr9:17985772-17985773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578181899	chr9:17985774-17985775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564577987	chr9:17985802-17985803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576426700	chr9:17985885-17985886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540577270	chr9:17985889-17985890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545732571	chr9:17985895-17985896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529768120	chr9:17985897-17985898	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17974600-17975200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr9:17985600-17987000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:17986200-17987800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr9:17986200-17989000	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr9:17986400-17988400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:17986600-17989800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:17987000-17988200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:17987000-17988400	Enhancers	Fetal Intestine Large	intestine
9	chr9:17987200-17988200	Enhancers	Aorta	Aorta
10	chr9:17987200-17988400	Enhancers	Fetal Intestine Small	intestine
11	chr9:17988000-17989800	Enhancers	Liver	Liver
12	chr9:17988200-18004400	Weak transcription	Aorta	Aorta
13	chr9:17988400-17988800	Weak transcription	Fetal Intestine Large	intestine
14	chr9:17988400-17988800	Weak transcription	Fetal Intestine Small	intestine
15	chr9:17988400-17992400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:17988800-17989000	Enhancers	Fetal Intestine Large	intestine
17	chr9:17988800-17989000	Enhancers	Fetal Intestine Small	intestine
18	chr9:17989000-17992400	Weak transcription	Fetal Intestine Large	intestine
19	chr9:17989000-17992400	Weak transcription	Fetal Intestine Small	intestine
20	chr9:17989000-17992800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:17989800-17994200	Weak transcription	Liver	Liver
22	chr9:17989800-17995000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr9:17990600-17998000	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links