Variant report

Variant	esv1804701
Chromosome Location	chr11:65922589-65957003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:41)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65937498..65939966-chr11:65945396..65947258,2	K562	blood:
2	chr11:65948158..65951834-chr11:65952872..65956194,5	K562	blood:
3	chr11:65940824..65943217-chr11:65943836..65945642,2	K562	blood:
4	chr11:65950174..65952396-chr11:65952934..65955921,3	MCF-7	breast:
5	chr11:65836198..65839140-chr11:65932253..65934463,3	K562	blood:
6	chr11:65940824..65943217-chr11:65943836..65945642,2	K562	blood:
7	chr11:65836369..65839379-chr11:65949041..65952714,3	MCF-7	breast:
8	chr11:65921627..65923245-chr11:65927449..65930072,2	MCF-7	breast:
9	chr11:65910186..65911941-chr11:65921532..65923148,2	MCF-7	breast:
10	chr11:65938428..65942314-chr11:65944673..65947481,3	MCF-7	breast:
11	chr11:65938428..65942314-chr11:65944673..65947481,3	MCF-7	breast:
12	chr11:65956435..65961151-chr11:65961394..65965581,4	K562	blood:
13	chr11:65948163..65952826-chr11:65952922..65956273,5	K562	blood:
14	chr11:65932311..65934818-chr11:65935989..65937985,2	K562	blood:
15	chr11:65835851..65838515-chr11:65935977..65938338,2	MCF-7	breast:
16	chr11:65818157..65820412-chr11:65929090..65931469,2	K562	blood:
17	chr11:65955437..65957297-chr11:66137549..66140312,2	MCF-7	breast:
18	chr11:65943828..65948747-chr11:65956841..65960329,6	MCF-7	breast:
19	chr11:65932311..65934818-chr11:65935989..65937985,2	K562	blood:
20	chr11:65955717..65957980-chr11:65978681..65980223,2	MCF-7	breast:
21	chr11:65950174..65952396-chr11:65952934..65955921,3	MCF-7	breast:
22	chr11:65949517..65951211-chr20:49346146..49349463,3	MCF-7	breast:
23	chr11:65955163..65956790-chr11:65961357..65963533,2	K562	blood:
24	chr11:65954321..65956732-chr11:65958143..65960901,2	MCF-7	breast:
25	chr11:65919284..65922014-chr11:65923374..65926941,3	K562	blood:
26	chr11:65891797..65892387-chr11:65949175..65950072,2	MCF-7	breast:
27	chr11:65902080..65904431-chr11:65921918..65923444,2	MCF-7	breast:
28	chr11:65926038..65926981-chr11:65989878..65990425,2	MCF-7	breast:
29	chr11:65949291..65953493-chr11:65956175..65959388,5	MCF-7	breast:
30	chr11:65949291..65953493-chr11:65956175..65959388,5	MCF-7	breast:
31	chr11:65836348..65838040-chr11:65924767..65927169,2	MCF-7	breast:
32	chr11:65937498..65939966-chr11:65945396..65947258,2	K562	blood:
33	chr11:65944269..65946953-chr11:65955648..65958595,2	MCF-7	breast:
34	chr11:65837726..65839448-chr11:65956338..65958965,2	MCF-7	breast:
35	chr11:65893056..65895986-chr11:65949360..65951068,2	MCF-7	breast:
36	chr11:65921627..65923245-chr11:65927449..65930072,2	MCF-7	breast:
37	chr11:65944269..65946953-chr11:65955648..65958595,2	MCF-7	breast:
38	chr11:65948158..65951834-chr11:65952872..65956194,5	K562	blood:
39	chr11:65948163..65952826-chr11:65952922..65956273,5	K562	blood:
40	chr11:65943828..65948747-chr11:65956841..65960329,6	MCF-7	breast:
41	chr11:65890608..65892349-chr11:65939940..65942700,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLC2-2	chr11:65933321-65935022	l_501_chr11:65933320-65934902_prostate
2	lnc-KLC2-2	chr11:65940840-65941181	l_501_chr11:65933320-65934902_prostate

No data

Variant related genes	Relation type
ENSG00000124171	chromatin interactions
ENSG00000255038	chromatin interactions
ENSG00000174669	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000238763	chromatin interactions

Extended variants
information (count: 1057 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1057 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs801739	chr11:65922589-65922590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75325430	chr11:65922596-65922597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542928879	chr11:65922710-65922711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529944048	chr11:65922762-65922763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573080536	chr11:65922793-65922794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61890288	chr11:65922800-65922801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116043652	chr11:65922828-65922829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551959022	chr11:65922856-65922857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184837545	chr11:65922908-65922909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527780314	chr11:65922911-65922912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547949664	chr11:65922922-65922923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567651961	chr11:65922942-65922943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530147300	chr11:65923017-65923018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78314035	chr11:65923032-65923033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569950470	chr11:65923055-65923056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1115508	chr11:65923149-65923150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs11227419	chr11:65923165-65923166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189395756	chr11:65923168-65923169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192508331	chr11:65923271-65923272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111570519	chr11:65923293-65923294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574065635	chr11:65923319-65923320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543420672	chr11:65923447-65923448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142092836	chr11:65923542-65923543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367610291	chr11:65923569-65923570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537343788	chr11:65923668-65923669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377104758	chr11:65923676-65923677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368466069	chr11:65923677-65923678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544474723	chr11:65923696-65923697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576674818	chr11:65923705-65923706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61270162	chr11:65923720-65923721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561001169	chr11:65923727-65923728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553470212	chr11:65923817-65923818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557201649	chr11:65923909-65923910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565466053	chr11:65923938-65923939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527924964	chr11:65923943-65923944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4310623	chr11:65923963-65923964	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561391329	chr11:65923975-65923976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530009840	chr11:65923977-65923978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542796764	chr11:65923995-65923996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9736673	chr11:65924024-65924025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185644766	chr11:65924041-65924042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532434023	chr11:65924043-65924044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552094074	chr11:65924101-65924102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565516508	chr11:65924125-65924126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534530029	chr11:65924133-65924134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554208706	chr11:65924141-65924142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567823590	chr11:65924142-65924143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536594978	chr11:65924207-65924208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs801738	chr11:65924217-65924218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189305872	chr11:65924241-65924242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr11:65905800-65924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:65905800-65952800	Weak transcription	Fetal Stomach	stomach
5	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:65910000-65939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:65910400-65927000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:65910600-65939600	Weak transcription	NHDF-Ad	bronchial
9	chr11:65911000-65924400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:65911000-65924400	Weak transcription	NHEK	skin
11	chr11:65911000-65924600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:65911000-65939400	Weak transcription	NH-A	brain
13	chr11:65911000-65943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:65912800-65924400	Weak transcription	A549	lung
15	chr11:65913200-65927000	Weak transcription	Right Ventricle	heart
16	chr11:65913200-65927200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:65913400-65924400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:65913400-65924400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:65913400-65929800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:65913400-65951000	Weak transcription	Spleen	Spleen
21	chr11:65914000-65924400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:65914200-65939600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:65914600-65929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:65914800-65927000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:65917800-65924400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:65918000-65949200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:65918400-65924400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:65918600-65924600	Weak transcription	Osteobl	bone
29	chr11:65918800-65926800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:65919000-65924400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:65919000-65924400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:65919000-65927000	Weak transcription	Right Atrium	heart
33	chr11:65919000-65927000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:65919000-65928600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:65919000-65928600	Weak transcription	Left Ventricle	heart
36	chr11:65919000-65939800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr11:65919200-65923000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:65920200-65928000	Weak transcription	Primary T cells from cord blood	blood
39	chr11:65920400-65922800	Weak transcription	GM12878-XiMat	blood
40	chr11:65920400-65924200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:65920400-65924400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:65920400-65954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:65920800-65924400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:65921000-65924400	Weak transcription	Hela-S3	cervix
45	chr11:65921000-65932400	Weak transcription	Primary B cells from cord blood	blood
46	chr11:65922000-65923400	Enhancers	HepG2	liver
47	chr11:65922800-65923400	Enhancers	GM12878-XiMat	blood
48	chr11:65922800-65926800	Weak transcription	Fetal Brain Male	brain
49	chr11:65922800-65927000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:65923200-65923400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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