Variant report

Variant	nsv8785
Chromosome Location	chr11:5842739-5844366
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	chr11:5830455..5833171-chr11:5843435..5846091,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147630831	chr11:5842774-5842775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562928816	chr11:5842835-5842836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200728444	chr11:5842836-5842837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530198636	chr11:5842896-5842897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10734554	chr11:5842909-5842910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs563396026	chr11:5842919-5842920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369208044	chr11:5842952-5842953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188896107	chr11:5842972-5842973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552433048	chr11:5842976-5842977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570824186	chr11:5843005-5843006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10734555	chr11:5843027-5843028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546860740	chr11:5843034-5843035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73394392	chr11:5843055-5843056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10734556	chr11:5843093-5843094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557194081	chr11:5843102-5843103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530891041	chr11:5843118-5843119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11039164	chr11:5843138-5843139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539510062	chr11:5843146-5843147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193116578	chr11:5843170-5843171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370309002	chr11:5843180-5843181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182942565	chr11:5843183-5843184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557613091	chr11:5843187-5843188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572774428	chr11:5843188-5843189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539863439	chr11:5843189-5843190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73394395	chr11:5843203-5843204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187618349	chr11:5843258-5843259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78457448	chr11:5843266-5843267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138597209	chr11:5843267-5843268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7119299	chr11:5843277-5843278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546259114	chr11:5843284-5843285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564459923	chr11:5843286-5843287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73394400	chr11:5843332-5843333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546697721	chr11:5843368-5843369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535466020	chr11:5843382-5843383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368798405	chr11:5843383-5843384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148885585	chr11:5843405-5843406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550933498	chr11:5843412-5843413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191735610	chr11:5843427-5843428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143485433	chr11:5843430-5843431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539283162	chr11:5843450-5843451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557819082	chr11:5843505-5843506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7941310	chr11:5843519-5843520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184307133	chr11:5843524-5843525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189149353	chr11:5843539-5843540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373579199	chr11:5843548-5843549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144245069	chr11:5843651-5843652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78071598	chr11:5843674-5843675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12796660	chr11:5843681-5843682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539953301	chr11:5843699-5843700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146296838	chr11:5843731-5843732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5837600-5844600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links