Variant report

Variant	esv9953
Chromosome Location	chr11:6114243-6122520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 321 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4520575	chr11:6114288-6114289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368425793	chr11:6114297-6114298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35324354	chr11:6114318-6114319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200996384	chr11:6114321-6114322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546691365	chr11:6114336-6114337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369799370	chr11:6114354-6114355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7929863	chr11:6114359-6114360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7932884	chr11:6114380-6114381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556728613	chr11:6114383-6114384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7929888	chr11:6114407-6114408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190433177	chr11:6114425-6114426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373019369	chr11:6114457-6114458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182652270	chr11:6114491-6114492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149099680	chr11:6114527-6114528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185454306	chr11:6114550-6114551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189767938	chr11:6114551-6114552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183477654	chr11:6114584-6114585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111856635	chr11:6114589-6114590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574635634	chr11:6114591-6114592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554266073	chr11:6114616-6114617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7122336	chr11:6114644-6114645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7122340	chr11:6114650-6114651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556437085	chr11:6114718-6114719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576856414	chr11:6114757-6114758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545745631	chr11:6114796-6114797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564428708	chr11:6114839-6114840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188928984	chr11:6114893-6114894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546856319	chr11:6114961-6114962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568157911	chr11:6115000-6115001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528949463	chr11:6115008-6115009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550657914	chr11:6115022-6115023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568723401	chr11:6115065-6115066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539438691	chr11:6115109-6115110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558963305	chr11:6115119-6115120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192927696	chr11:6115126-6115127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183465961	chr11:6115128-6115129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7114613	chr11:6115144-6115145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564909940	chr11:6115157-6115158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541918150	chr11:6115170-6115171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572050947	chr11:6115204-6115205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs188354977	chr11:6115249-6115250	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs575523295	chr11:6115314-6115315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7111479	chr11:6115315-6115316	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7114866	chr11:6115338-6115339	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529707878	chr11:6115398-6115399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs573220352	chr11:6115419-6115420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs540535815	chr11:6115431-6115432	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143189694	chr11:6115432-6115433	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541774596	chr11:6115463-6115464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs10839476	chr11:6115474-6115475	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6112800-6117200	Weak transcription	Fetal Heart	heart
2	chr11:6114600-6115200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:6115000-6116000	Enhancers	Primary T cells from cord blood	blood
4	chr11:6115200-6116000	Enhancers	HUVEC	blood vessel
5	chr11:6115200-6116000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:6115200-6116200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:6115200-6116800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:6115400-6115800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:6115400-6115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:6116000-6116200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:6116600-6118800	Enhancers	Placenta	Placenta
12	chr11:6117200-6118400	Enhancers	Fetal Heart	heart
13	chr11:6117400-6117600	Enhancers	Fetal Muscle Leg	muscle
14	chr11:6117400-6117800	Bivalent Enhancer	HUVEC	blood vessel
15	chr11:6117400-6118800	Enhancers	Left Ventricle	heart
16	chr11:6117600-6117800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:6117600-6118000	Enhancers	Right Ventricle	heart
18	chr11:6117600-6118600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:6118000-6118600	Enhancers	Psoas Muscle	Psoas
20	chr11:6118200-6118400	Enhancers	Fetal Muscle Leg	muscle
21	chr11:6120400-6122000	Enhancers	Primary T cells from cord blood	blood
22	chr11:6121000-6122000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:6121200-6122000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:6122000-6122200	Enhancers	Primary neutrophils fromperipheralblood	blood

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