Variant report

Variant	esv3348933
Chromosome Location	chr11:8808208-8809077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL27A-2	chr11:8808601-8808833	ENSG00000255159.1

Extended variants
information (count: 37 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3844099	chr11:8808252-8808253	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569582191	chr11:8808290-8808291	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540763403	chr11:8808295-8808296	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538559482	chr11:8808312-8808313	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191126931	chr11:8808313-8808314	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565734927	chr11:8808343-8808344	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141910885	chr11:8808377-8808378	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139158870	chr11:8808387-8808388	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554353352	chr11:8808393-8808394	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574503811	chr11:8808418-8808419	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537016513	chr11:8808431-8808432	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146276410	chr11:8808465-8808466	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148473817	chr11:8808532-8808533	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3763920	chr11:8808587-8808588	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs546515421	chr11:8808607-8808608	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs3763919	chr11:8808632-8808633	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs183339276	chr11:8808636-8808637	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs562858675	chr11:8808638-8808639	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs573339491	chr11:8808698-8808699	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs142666768	chr11:8808704-8808705	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs562010090	chr11:8808820-8808821	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs117965545	chr11:8808821-8808822	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs372827896	chr11:8808829-8808830	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs117417445	chr11:8808832-8808833	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs188270171	chr11:8808847-8808848	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533203234	chr11:8808865-8808866	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150570795	chr11:8808875-8808876	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566000834	chr11:8808881-8808882	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528252243	chr11:8808882-8808883	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548387639	chr11:8808889-8808890	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146607270	chr11:8808895-8808896	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398075703	chr11:8808904-8808905	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74054204	chr11:8808960-8808961	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537146706	chr11:8808964-8808965	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557138673	chr11:8808986-8808987	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114960336	chr11:8809008-8809009	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10769957	chr11:8809016-8809017	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
3	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:8798200-8808400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:8798200-8810000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:8800600-8811400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:8800800-8808600	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:8800800-8822400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
11	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8801000-8808400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:8801000-8808400	Weak transcription	HepG2	liver
14	chr11:8801000-8815600	Weak transcription	NHDF-Ad	bronchial
15	chr11:8801200-8808400	Weak transcription	HMEC	breast
16	chr11:8801600-8820000	Weak transcription	HSMMtube	muscle
17	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
18	chr11:8801800-8808400	Weak transcription	Brain Anterior Caudate	brain
19	chr11:8801800-8808600	Weak transcription	NHEK	skin
20	chr11:8801800-8808800	Weak transcription	Placenta	Placenta
21	chr11:8801800-8814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:8802000-8816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:8802200-8808400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:8802200-8808600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:8802200-8819200	Weak transcription	NH-A	brain
26	chr11:8802400-8810600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:8802800-8816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:8803000-8815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:8803000-8820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:8804400-8811000	Enhancers	Colon Smooth Muscle	Colon
31	chr11:8805200-8808600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:8805800-8808600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:8805800-8811400	Weak transcription	Aorta	Aorta
34	chr11:8806000-8810800	Enhancers	Right Ventricle	heart
35	chr11:8806400-8810800	Enhancers	Fetal Heart	heart
36	chr11:8806600-8808600	Genic enhancers	Fetal Stomach	stomach
37	chr11:8806600-8808800	Strong transcription	NHLF	lung
38	chr11:8806600-8809400	Enhancers	Left Ventricle	heart
39	chr11:8806800-8809400	Enhancers	Pancreas	Pancrea
40	chr11:8807000-8811800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:8807200-8808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:8807200-8809800	Enhancers	Stomach Smooth Muscle	stomach
43	chr11:8807200-8811600	Weak transcription	Fetal Intestine Large	intestine
44	chr11:8807400-8808400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:8807400-8808600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:8807400-8808800	Weak transcription	Stomach Mucosa	stomach
47	chr11:8807400-8809000	Weak transcription	Spleen	Spleen
48	chr11:8807400-8811400	Weak transcription	Lung	lung
49	chr11:8807600-8809600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:8807600-8814000	Weak transcription	Fetal Lung	lung

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