Variant report

Variant	esv1850399
Chromosome Location	chr11:65935801-65939026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65932311..65934818-chr11:65935989..65937985,2	K562	blood:
2	chr11:65937498..65939966-chr11:65945396..65947258,2	K562	blood:
3	chr11:65938428..65942314-chr11:65944673..65947481,3	MCF-7	breast:
4	chr11:65835851..65838515-chr11:65935977..65938338,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175115	chromatin interactions
ENSG00000255038	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555658617	chr11:65935836-65935837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575314371	chr11:65935882-65935883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75232660	chr11:65935914-65935915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373847892	chr11:65935917-65935918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368046867	chr11:65935944-65935945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77818889	chr11:65935994-65935995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78989162	chr11:65936006-65936007	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540371586	chr11:65936021-65936022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559878720	chr11:65936118-65936119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528903798	chr11:65936124-65936125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186592659	chr11:65936169-65936170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61890289	chr11:65936173-65936174	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531096558	chr11:65936174-65936175	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34653629	chr11:65936212-65936213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs34140940	chr11:65936223-65936224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs60650673	chr11:65936225-65936226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs386374028	chr11:65936243-65936244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192007872	chr11:65936246-65936247	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375141001	chr11:65936248-65936249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs71270570	chr11:65936250-65936251	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75071174	chr11:65936255-65936256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547101152	chr11:65936278-65936279	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10896089	chr11:65936292-65936293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535860586	chr11:65936338-65936339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146974218	chr11:65936477-65936478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577063415	chr11:65936494-65936495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144637841	chr11:65936526-65936527	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs74309180	chr11:65936528-65936529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555335458	chr11:65936602-65936603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs141141554	chr11:65936728-65936729	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538189456	chr11:65936863-65936864	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560784411	chr11:65936876-65936877	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs59423838	chr11:65936877-65936878	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs397943025	chr11:65936887-65936888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557975685	chr11:65936967-65936968	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577947215	chr11:65936998-65936999	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539921421	chr11:65937011-65937012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373276210	chr11:65937037-65937038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144678837	chr11:65937038-65937039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs59176258	chr11:65937055-65937056	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182588186	chr11:65937065-65937066	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185875386	chr11:65937156-65937157	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11227420	chr11:65937170-65937171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541540081	chr11:65937182-65937183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562388185	chr11:65937186-65937187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs375468751	chr11:65937192-65937193	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531098435	chr11:65937374-65937375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368916462	chr11:65937430-65937431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550894284	chr11:65937496-65937497	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201817691	chr11:65937524-65937525	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65905200-65947000	Weak transcription	Fetal Lung	lung
2	chr11:65905400-65939600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:65905800-65952800	Weak transcription	Fetal Stomach	stomach
4	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:65910000-65939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:65910600-65939600	Weak transcription	NHDF-Ad	bronchial
7	chr11:65911000-65939400	Weak transcription	NH-A	brain
8	chr11:65911000-65943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:65913400-65951000	Weak transcription	Spleen	Spleen
10	chr11:65914200-65939600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65918000-65949200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:65919000-65939800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr11:65920400-65954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:65924800-65943200	Weak transcription	NHEK	skin
15	chr11:65925000-65939400	Weak transcription	Osteobl	bone
16	chr11:65925000-65939800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65925200-65939600	Weak transcription	HMEC	breast
18	chr11:65925400-65955000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:65925600-65952800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:65925800-65955000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:65927200-65939800	Weak transcription	Lung	lung
22	chr11:65927200-65951000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:65927200-65951000	Weak transcription	Pancreas	Pancrea
24	chr11:65927200-65958400	Weak transcription	Gastric	stomach
25	chr11:65927400-65937800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:65927400-65939600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:65927400-65939800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:65927600-65947600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:65928000-65939600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:65928600-65939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:65928600-65945000	Weak transcription	GM12878-XiMat	blood
32	chr11:65928800-65957000	Weak transcription	Left Ventricle	heart
33	chr11:65929400-65960200	Weak transcription	HSMM	muscle
34	chr11:65929600-65939000	Weak transcription	Fetal Heart	heart
35	chr11:65929600-65944400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:65929600-65946400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:65929600-65977800	Weak transcription	HSMMtube	muscle
38	chr11:65929800-65944400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:65930000-65960200	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:65930000-65960800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:65930200-65939800	Weak transcription	Esophagus	oesophagus
42	chr11:65930200-65942600	Weak transcription	Adipose Nuclei	Adipose
43	chr11:65930800-65939800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:65931200-65939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:65931600-65937400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:65931600-65937800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:65931600-65939400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:65931600-65939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:65932800-65939400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:65932800-65942400	Weak transcription	Placenta	Placenta

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