Variant report

Variant	esv3324976
Chromosome Location	chr11:45123104-45123879
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	chr11:44999566..45001373-chr11:45120820..45123458,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78961503	chr11:45123106-45123107	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs200361046	chr11:45123118-45123119	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs372911204	chr11:45123119-45123120	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs9736028	chr11:45123121-45123122	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs187994423	chr11:45123134-45123135	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs542443791	chr11:45123135-45123136	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs77353804	chr11:45123136-45123137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs559616102	chr11:45123153-45123154	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs528368104	chr11:45123154-45123155	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs551714632	chr11:45123162-45123163	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs116623799	chr11:45123166-45123167	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs76953556	chr11:45123171-45123172	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs16938170	chr11:45123182-45123183	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112228319	chr11:45123197-45123198	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs530933982	chr11:45123218-45123219	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs76158292	chr11:45123226-45123227	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs77701363	chr11:45123241-45123242	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs201708809	chr11:45123254-45123255	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs199623512	chr11:45123259-45123260	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs75246550	chr11:45123270-45123271	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs112134309	chr11:45123314-45123315	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs111347251	chr11:45123358-45123359	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs12793974	chr11:45123402-45123403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs67434927	chr11:45123435-45123436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558949718	chr11:45123446-45123447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112904610	chr11:45123549-45123550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113124092	chr11:45123567-45123568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113724468	chr11:45123611-45123612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113645970	chr11:45123622-45123623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113481583	chr11:45123655-45123656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35548538	chr11:45123666-45123667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112866872	chr11:45123681-45123682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112632198	chr11:45123699-45123700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs36024895	chr11:45123710-45123711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113573674	chr11:45123725-45123726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112824877	chr11:45123743-45123744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77924518	chr11:45123754-45123755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35988327	chr11:45123769-45123770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12794740	chr11:45123782-45123783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35211970	chr11:45123787-45123788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546848988	chr11:45123797-45123798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34937552	chr11:45123798-45123799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs59175976	chr11:45123813-45123814	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs558827063	chr11:45123821-45123822	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs551497504	chr11:45123826-45123827	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs569255981	chr11:45123842-45123843	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs536632492	chr11:45123862-45123863	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs556952662	chr11:45123877-45123878	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45113800-45123800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr11:45114800-45124200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:45117000-45124000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:45117000-45124000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:45117000-45126400	Weak transcription	Thymus	Thymus
6	chr11:45119800-45124200	Weak transcription	Pancreas	Pancrea
7	chr11:45120000-45123800	Weak transcription	Spleen	Spleen
8	chr11:45120000-45124000	Weak transcription	Lung	lung
9	chr11:45120000-45124200	Weak transcription	Esophagus	oesophagus
10	chr11:45120000-45124200	Weak transcription	Right Atrium	heart
11	chr11:45120200-45124000	Weak transcription	HMEC	breast
12	chr11:45120200-45124200	Weak transcription	Right Ventricle	heart
13	chr11:45120400-45123800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:45120400-45123800	Weak transcription	NHEK	skin
15	chr11:45120400-45124400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:45121800-45124200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:45122000-45124800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:45122200-45124000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:45122200-45124000	Weak transcription	Fetal Brain Male	brain
20	chr11:45122200-45125000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:45122600-45124000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:45122600-45124200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:45122600-45124800	Enhancers	Fetal Thymus	thymus
24	chr11:45122800-45123800	Weak transcription	Primary B cells from cord blood	blood
25	chr11:45122800-45123800	Weak transcription	Fetal Intestine Small	intestine
26	chr11:45122800-45124200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:45122800-45124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:45122800-45124200	Weak transcription	Fetal Brain Female	brain
29	chr11:45123000-45123200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:45123000-45123400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:45123000-45123400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr11:45123000-45125000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr11:45123200-45123400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:45123400-45123800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:45123400-45125000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:45123400-45132200	Enhancers	Fetal Muscle Leg	muscle
37	chr11:45123600-45123800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr11:45123600-45125200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:45123800-45124000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr11:45123800-45124200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:45123800-45124200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:45123800-45124200	Enhancers	Osteobl	bone
43	chr11:45123800-45124400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:45123800-45124400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:45123800-45124400	Enhancers	Primary B cells from cord blood	blood
46	chr11:45123800-45124400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:45123800-45124600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:45123800-45124600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:45123800-45124600	Enhancers	NHLF	lung
50	chr11:45123800-45124800	Enhancers	Primary hematopoietic stem cells	blood

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