Variant report

Variant	esv2762906
Chromosome Location	chr11:36453831-36457253
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	chr11:36456317..36458614-chr11:36460848..36463525,3	K562	blood:
2	chr11:36457236..36460043-chr11:36463746..36466042,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16928829	chr11:36453831-36453832	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192978197	chr11:36453847-36453848	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528582337	chr11:36453907-36453908	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75654419	chr11:36453954-36453955	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1863398	chr11:36453978-36453979	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142260169	chr11:36454022-36454023	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553389011	chr11:36454044-36454045	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530861745	chr11:36454072-36454073	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551243947	chr11:36454176-36454177	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78547400	chr11:36454224-36454225	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539999043	chr11:36454230-36454231	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs331485	chr11:36454231-36454232	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs137906451	chr11:36454255-36454256	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201787935	chr11:36454274-36454275	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535553826	chr11:36454297-36454298	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540538188	chr11:36454388-36454389	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568866126	chr11:36454469-36454470	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565094704	chr11:36454538-36454539	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532569048	chr11:36454548-36454549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200324236	chr11:36454584-36454585	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149456521	chr11:36454587-36454588	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558012351	chr11:36454609-36454610	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs331484	chr11:36454616-36454617	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114481684	chr11:36454639-36454640	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183950259	chr11:36454689-36454690	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572957348	chr11:36454740-36454741	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541918722	chr11:36454826-36454827	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561889452	chr11:36454830-36454831	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569242698	chr11:36454835-36454836	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113379521	chr11:36454894-36454895	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530797002	chr11:36454995-36454996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573465	chr11:36455011-36455012	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372742494	chr11:36455017-36455018	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564771272	chr11:36455058-36455059	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548266869	chr11:36455076-36455077	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75000992	chr11:36455131-36455132	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186668256	chr11:36455145-36455146	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567073121	chr11:36455167-36455168	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529557855	chr11:36455245-36455246	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111404232	chr11:36455257-36455258	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113604112	chr11:36455274-36455275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534047160	chr11:36455287-36455288	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558902150	chr11:36455317-36455318	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143976028	chr11:36455340-36455341	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537821415	chr11:36455375-36455376	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191128517	chr11:36455379-36455380	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140385860	chr11:36455391-36455392	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184762239	chr11:36455401-36455402	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541317951	chr11:36455467-36455468	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533850441	chr11:36455498-36455499	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
3	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
5	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:36442600-36462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36443800-36457400	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:36444000-36471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:36444200-36471400	Weak transcription	Small Intestine	intestine
11	chr11:36447600-36471000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:36448400-36463800	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr11:36448400-36470600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:36448600-36470600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:36448600-36471000	Weak transcription	Fetal Thymus	thymus
16	chr11:36448600-36471000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:36448800-36463000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:36448800-36471400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:36449200-36467800	Weak transcription	Ovary	ovary
20	chr11:36449200-36469200	Weak transcription	Placenta	Placenta
21	chr11:36449200-36471400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:36449400-36457800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:36449400-36471200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:36449400-36471200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:36449600-36457000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:36449600-36463000	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:36449600-36467600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:36449600-36469000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:36449600-36474000	Weak transcription	Right Ventricle	heart
30	chr11:36449800-36454800	Weak transcription	Colonic Mucosa	Colon
31	chr11:36449800-36460400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:36449800-36463000	Weak transcription	Fetal Stomach	stomach
33	chr11:36449800-36463000	Weak transcription	Lung	lung
34	chr11:36450000-36468400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:36450200-36459000	Weak transcription	Gastric	stomach
36	chr11:36450200-36463400	Weak transcription	Brain Anterior Caudate	brain
37	chr11:36451800-36454200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:36451800-36460600	Weak transcription	Pancreas	Pancrea
39	chr11:36452000-36454000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:36452000-36454000	Enhancers	Brain Substantia Nigra	brain
41	chr11:36452000-36454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:36452200-36454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:36452400-36454200	Enhancers	Brain Cingulate Gyrus	brain
44	chr11:36452400-36454200	Enhancers	Brain Hippocampus Middle	brain
45	chr11:36452400-36454400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:36452400-36455000	Genic enhancers	Fetal Intestine Small	intestine
47	chr11:36452400-36455200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr11:36452400-36455400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:36452400-36470600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:36452600-36454000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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