Variant report

Variant	nsv611354
Chromosome Location	chr8:52928389-52948177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC090186.1-2	chr8:52934976-52935473	NONHSAT126546
2	lnc-AC090186.1-2	chr8:52934976-52935534	ENSG00000253844
3	lnc-AC090186.1-2	chr8:52934976-52935448	NONHSAT126547

Extended variants
information (count: 425 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4873633	chr8:52928389-52928390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553656537	chr8:52928404-52928405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182918381	chr8:52928426-52928427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11987943	chr8:52928433-52928434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs564074255	chr8:52928434-52928435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531329227	chr8:52928450-52928451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138664622	chr8:52928467-52928468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141788058	chr8:52928479-52928480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530347844	chr8:52928497-52928498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187514602	chr8:52928512-52928513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138345937	chr8:52928575-52928576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367723575	chr8:52928629-52928630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371522103	chr8:52928634-52928635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149527685	chr8:52928635-52928636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71300625	chr8:52928637-52928638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34066382	chr8:52928638-52928639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10105723	chr8:52928639-52928640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200465423	chr8:52928640-52928641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59156871	chr8:52928653-52928654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36000387	chr8:52928655-52928656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10105814	chr8:52928660-52928661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs192083840	chr8:52928687-52928688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150618411	chr8:52928738-52928739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185811273	chr8:52928768-52928769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113118630	chr8:52928790-52928791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117544234	chr8:52928796-52928797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535540971	chr8:52928812-52928813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553939016	chr8:52928822-52928823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572099038	chr8:52928866-52928867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139946868	chr8:52928875-52928876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552670806	chr8:52928926-52928927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115709413	chr8:52929021-52929022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192751105	chr8:52929025-52929026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543422275	chr8:52929093-52929094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561640779	chr8:52929108-52929109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72545698	chr8:52929112-52929113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10106301	chr8:52929113-52929114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs75611953	chr8:52929143-52929144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs268926	chr8:52929150-52929151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184206155	chr8:52929166-52929167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367599409	chr8:52929189-52929190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61159260	chr8:52929203-52929204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149432250	chr8:52929219-52929220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147548951	chr8:52929221-52929222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574518268	chr8:52929274-52929275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73679114	chr8:52929321-52929322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140074838	chr8:52929415-52929416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544761613	chr8:52929433-52929434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59691741	chr8:52929434-52929435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397971119	chr8:52929445-52929446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52921200-52932800	Weak transcription	Pancreas	Pancrea
2	chr8:52927000-52932800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:52927800-52928600	Enhancers	Fetal Thymus	thymus
4	chr8:52929600-52930000	Enhancers	A549	lung
5	chr8:52932800-52933000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:52932800-52933200	Enhancers	Pancreas	Pancrea
7	chr8:52933000-52933400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:52933200-52934600	Weak transcription	Pancreas	Pancrea
9	chr8:52933400-52933800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:52934600-52934800	Enhancers	Pancreas	Pancrea
11	chr8:52934600-52935200	Enhancers	Left Ventricle	heart
12	chr8:52944600-52944800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr8:52944600-52945400	Enhancers	Fetal Intestine Small	intestine
14	chr8:52944600-52947000	Enhancers	Fetal Intestine Large	intestine
15	chr8:52945200-52945400	Enhancers	HepG2	liver
16	chr8:52945200-52946000	Active TSS	Duodenum Mucosa	Duodenum
17	chr8:52945200-52946600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:52945200-52946800	Enhancers	Fetal Thymus	thymus
19	chr8:52945400-52945600	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr8:52945400-52945600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:52945400-52945800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:52945400-52945800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr8:52945400-52946000	Active TSS	Colonic Mucosa	Colon
24	chr8:52945400-52946000	Flanking Active TSS	HepG2	liver
25	chr8:52945400-52946800	Enhancers	Pancreas	Pancrea
26	chr8:52945600-52946000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr8:52945600-52946000	Enhancers	Stomach Smooth Muscle	stomach
28	chr8:52945600-52946200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:52945600-52946600	Enhancers	Stomach Mucosa	stomach
30	chr8:52945600-52947000	Enhancers	Fetal Intestine Small	intestine
31	chr8:52945800-52946000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:52946000-52946200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr8:52946000-52946200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr8:52946000-52947000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:52946000-52947000	Enhancers	HepG2	liver
36	chr8:52946200-52946400	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:52946200-52947200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr8:52946800-52947000	Enhancers	Colonic Mucosa	Colon
39	chr8:52946800-52950600	Weak transcription	Fetal Thymus	thymus
40	chr8:52946800-52953000	Weak transcription	Pancreas	Pancrea
41	chr8:52947200-52953200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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