Variant report

Variant	esv3376156
Chromosome Location	chr11:36572626-36580074
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	chr11:36577777..36580752-chr11:36593983..36595906,2	K562	blood:
2	chr11:36560056..36562642-chr11:36572222..36573907,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAG2-2	chr11:36576228-36576405	refGeneNc_553_NR_033666
2	lnc-RAG2-2	chr11:36572860-36573321	refGeneNc_553_NR_033666

Extended variants
information (count: 79 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571337838	chr11:36572679-36572680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57273606	chr11:36572688-36572689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569430360	chr11:36572695-36572696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182367931	chr11:36572718-36572719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141241656	chr11:36572754-36572755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565587529	chr11:36572818-36572819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146954910	chr11:36572839-36572840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556875130	chr11:36572868-36572869	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs554576225	chr11:36572929-36572930	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs574528579	chr11:36572956-36572957	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs537258634	chr11:36572970-36572971	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs116108987	chr11:36572980-36572981	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs186683537	chr11:36573015-36573016	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs138158029	chr11:36573022-36573023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs141724766	chr11:36573023-36573024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs568757172	chr11:36573055-36573056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs150598350	chr11:36573101-36573102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs114789030	chr11:36573106-36573107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs200694297	chr11:36573152-36573153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs561442019	chr11:36573153-36573154	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs79673486	chr11:36573163-36573164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs530200639	chr11:36573225-36573226	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs61877434	chr11:36573313-36573314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs200320984	chr11:36576289-36576290	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs536273273	chr11:36578817-36578818	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376019556	chr11:36578835-36578836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557189564	chr11:36578867-36578868	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369280138	chr11:36578930-36578931	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570699885	chr11:36578955-36578956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539093108	chr11:36578999-36579000	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368136454	chr11:36579007-36579008	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558784575	chr11:36579015-36579016	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572373793	chr11:36579016-36579017	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541080799	chr11:36579020-36579021	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12272616	chr11:36579076-36579077	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191152742	chr11:36579085-36579086	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34340782	chr11:36579095-36579096	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34608958	chr11:36579109-36579110	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140003677	chr11:36579115-36579116	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534859896	chr11:36579118-36579119	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545836842	chr11:36579127-36579128	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559206068	chr11:36579133-36579134	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369804307	chr11:36579150-36579151	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528223623	chr11:36579181-36579182	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368035741	chr11:36579207-36579208	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369564564	chr11:36579267-36579268	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11033693	chr11:36579290-36579291	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs188898432	chr11:36579291-36579292	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34187519	chr11:36579340-36579341	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568107421	chr11:36579346-36579347	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36571600-36572800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:36572000-36572800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:36572000-36573000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:36578800-36579400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:36579000-36579600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:36579000-36579600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:36579000-36579600	Enhancers	Dnd41	blood
8	chr11:36579000-36580200	Active TSS	K562	blood
9	chr11:36579200-36580000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:36579400-36579600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:36579400-36580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:36579400-36580000	Enhancers	NHEK	skin
13	chr11:36579400-36580800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr11:36579600-36580000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:36579600-36580200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:36579600-36582400	Flanking Active TSS	Dnd41	blood
17	chr11:36579800-36580000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:36579800-36580200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:36579800-36580200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:36579800-36580400	Enhancers	Liver	Liver
21	chr11:36579800-36580400	Active TSS	Duodenum Mucosa	Duodenum
22	chr11:36579800-36580600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:36579800-36580600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:36580000-36580200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:36580000-36580200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:36580000-36580200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:36580000-36580400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:36580000-36580800	Active TSS	Primary T cells fromperipheralblood	blood
29	chr11:36580000-36580800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:36580000-36580800	Active TSS	GM12878-XiMat	blood
31	chr11:36580000-36581000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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