Variant report

Variant	esv3462263
Chromosome Location	chr11:65903488-65904839
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65894077..65895710-chr11:65900818..65903670,2	K562	blood:
2	chr11:65903374..65906187-chr11:65918523..65921297,2	MCF-7	breast:
3	chr11:65812504..65815359-chr11:65900804..65903799,2	MCF-7	breast:
4	chr11:65834370..65841898-chr11:65897925..65905090,13	MCF-7	breast:
5	chr11:65875746..65878415-chr11:65902728..65904507,2	MCF-7	breast:
6	chr11:65769464..65771384-chr11:65902073..65904994,3	MCF-7	breast:
7	chr11:65833892..65843127-chr11:65900837..65907449,12	MCF-7	breast:
8	chr11:65849116..65851691-chr11:65904500..65906481,2	MCF-7	breast:
9	chr11:65902080..65904431-chr11:65921918..65923444,2	MCF-7	breast:
10	chr11:65900786..65903675-chr11:65962216..65963909,2	MCF-7	breast:
11	chr11:65847293..65849412-chr11:65902242..65904368,2	MCF-7	breast:
12	chr11:65899561..65902107-chr11:65903112..65905957,2	MCF-7	breast:
13	chr11:65899578..65902503-chr11:65902811..65904748,2	K562	blood:
14	chr11:65901646..65904631-chr11:65908270..65911227,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175376	chromatin interactions
ENSG00000238763	chromatin interactions
ENSG00000175229	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000255038	chromatin interactions
ENSG00000175334	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145093921	chr11:65903563-65903564	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs531513199	chr11:65903572-65903573	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs551622558	chr11:65903573-65903574	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs564938202	chr11:65903588-65903589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs61891827	chr11:65903592-65903593	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568672940	chr11:65903611-65903612	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs547031197	chr11:65903614-65903615	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs117008812	chr11:65903653-65903654	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs113842972	chr11:65903730-65903731	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs71270571	chr11:65903733-65903734	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs371988807	chr11:65903734-65903735	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs143919177	chr11:65903747-65903748	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs150784312	chr11:65903753-65903754	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs398038673	chr11:65903757-65903758	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs61891828	chr11:65903759-65903760	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs371727892	chr11:65903793-65903794	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs376943249	chr11:65903794-65903795	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs139813589	chr11:65903795-65903796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs201626086	chr11:65903796-65903797	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs199946441	chr11:65903798-65903799	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs200174868	chr11:65903800-65903801	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs201123696	chr11:65903802-65903803	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs535906300	chr11:65903818-65903819	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs61577143	chr11:65903825-65903826	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs549634249	chr11:65903844-65903845	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs569236428	chr11:65903858-65903859	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs112396585	chr11:65903897-65903898	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs80137949	chr11:65903911-65903912	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs149454413	chr11:65903947-65903948	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs74851792	chr11:65903952-65903953	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs577671633	chr11:65903964-65903965	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs527858882	chr11:65903980-65903981	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs554015278	chr11:65903993-65903994	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs573963758	chr11:65904014-65904015	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs542685453	chr11:65904073-65904074	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs189899728	chr11:65904155-65904156	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs576420094	chr11:65904221-65904222	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs147259761	chr11:65904253-65904254	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs545183574	chr11:65904276-65904277	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs565076557	chr11:65904369-65904370	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs201929428	chr11:65904393-65904394	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs369168950	chr11:65904446-65904447	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs140737200	chr11:65904457-65904458	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs77821550	chr11:65904493-65904494	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs10719542	chr11:65904494-65904495	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs571346643	chr11:65904498-65904499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs577128600	chr11:65904504-65904505	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs200747746	chr11:65904505-65904506	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs547925881	chr11:65904513-65904514	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs547456911	chr11:65904538-65904539	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
2	chr11:65888400-65909800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:65894200-65904000	Weak transcription	HepG2	liver
4	chr11:65894400-65904600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:65894400-65909000	Weak transcription	K562	blood
6	chr11:65894800-65912200	Weak transcription	Thymus	Thymus
7	chr11:65895000-65909200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:65895000-65913800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:65895000-65917600	Weak transcription	HSMM	muscle
10	chr11:65895200-65904600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:65895200-65905000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:65895200-65905000	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:65895200-65905000	Weak transcription	Right Ventricle	heart
14	chr11:65895200-65907600	Weak transcription	Pancreas	Pancrea
15	chr11:65895200-65912200	Weak transcription	Lung	lung
16	chr11:65895200-65913000	Weak transcription	Psoas Muscle	Psoas
17	chr11:65895400-65904200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:65895400-65905000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:65895400-65909400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:65895400-65910200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:65895600-65909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:65895600-65909800	Weak transcription	NHEK	skin
23	chr11:65896600-65907800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:65896600-65912800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:65897000-65903800	Enhancers	A549	lung
26	chr11:65898400-65913000	Weak transcription	Spleen	Spleen
27	chr11:65900000-65907200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:65900000-65909800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:65900800-65905000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:65901000-65919400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:65901200-65904000	Weak transcription	Fetal Intestine Small	intestine
32	chr11:65901200-65904800	Weak transcription	Fetal Heart	heart
33	chr11:65901200-65905000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:65901200-65905000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:65901200-65905000	Weak transcription	Left Ventricle	heart
36	chr11:65901200-65905000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:65901200-65909800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:65901200-65910800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:65901600-65905400	Weak transcription	Primary B cells from cord blood	blood
40	chr11:65901800-65905000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:65902000-65903800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:65902000-65904000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:65902000-65912800	Weak transcription	Right Atrium	heart
44	chr11:65902200-65903800	Weak transcription	Hela-S3	cervix
45	chr11:65902200-65905000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:65902200-65906000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:65902200-65909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:65902200-65910400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:65902400-65904600	Weak transcription	Fetal Brain Female	brain
50	chr11:65902600-65904200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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