Variant report

Variant	esv3326724
Chromosome Location	chr6:49469324-49476170
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	chr6:49421120..49423135-chr6:49476004..49477892,2	K562	blood:

Extended variants
information (count: 273 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:273 , 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	rs570025313	chr6:49469328-49469329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535154473	chr6:49469359-49469360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183594098	chr6:49469371-49469372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553708735	chr6:49469385-49469386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530376088	chr6:49469400-49469401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376086902	chr6:49469402-49469403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540491365	chr6:49469431-49469432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376573634	chr6:49469441-49469442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565158907	chr6:49469460-49469461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138844360	chr6:49469474-49469475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544309737	chr6:49469494-49469495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148302240	chr6:49469502-49469503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543065481	chr6:49469513-49469514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12214753	chr6:49469539-49469540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548328302	chr6:49469562-49469563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376060133	chr6:49469570-49469571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532273228	chr6:49469575-49469576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527603808	chr6:49469583-49469584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552284795	chr6:49469615-49469616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552451053	chr6:49469635-49469636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570667853	chr6:49469638-49469639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531574926	chr6:49469641-49469642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550000023	chr6:49469690-49469691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140605214	chr6:49469706-49469707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10755760	chr6:49469716-49469717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs553506429	chr6:49469729-49469730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377723669	chr6:49469784-49469785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565642336	chr6:49469785-49469786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2498467	chr6:49469805-49469806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558787034	chr6:49469812-49469813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577112695	chr6:49469868-49469869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544430539	chr6:49469904-49469905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185952081	chr6:49469924-49469925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545515898	chr6:49469944-49469945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574851447	chr6:49470046-49470047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190719255	chr6:49470048-49470049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148134344	chr6:49470138-49470139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527643027	chr6:49470147-49470148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548325132	chr6:49470207-49470208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546208762	chr6:49470208-49470209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182500236	chr6:49470212-49470213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567736306	chr6:49470285-49470286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531615899	chr6:49470287-49470288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568281348	chr6:49470328-49470329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187204370	chr6:49470342-49470343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372392923	chr6:49470418-49470419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529001172	chr6:49470423-49470424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547422634	chr6:49470425-49470426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565550835	chr6:49470428-49470429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9395496	chr6:49470452-49470453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49432600-49472000	Weak transcription	NHEK	skin
2	chr6:49458400-49472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:49458600-49473800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:49460400-49473200	Weak transcription	HepG2	liver
5	chr6:49460600-49473600	Weak transcription	Stomach Mucosa	stomach
6	chr6:49461400-49472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:49472000-49472800	Enhancers	NHEK	skin
8	chr6:49472400-49473200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:49473200-49474000	Enhancers	HepG2	liver
10	chr6:49473600-49475200	Enhancers	Stomach Mucosa	stomach
11	chr6:49473800-49474200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:49473800-49474600	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:49474000-49474200	Active TSS	Liver	Liver
14	chr6:49474000-49475000	Flanking Active TSS	HepG2	liver
15	chr6:49474200-49474400	Flanking Active TSS	Liver	Liver
16	chr6:49474200-49474400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:49474200-49474800	Enhancers	Fetal Intestine Small	intestine
18	chr6:49474400-49474600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:49474400-49475000	Enhancers	Esophagus	oesophagus
20	chr6:49474400-49475000	Enhancers	Pancreas	Pancrea
21	chr6:49474400-49475600	Enhancers	Liver	Liver
22	chr6:49474600-49474800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr6:49474600-49474800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:49474600-49475400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:49474800-49475400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:49475000-49478200	Enhancers	HepG2	liver
27	chr6:49475200-49481000	Weak transcription	Stomach Mucosa	stomach
28	chr6:49475600-49476800	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links