Variant report

Variant	esv3462530
Chromosome Location	chr11:73790595-73792217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73790243..73790743-chr5:138940220..138940886,2	NB4	blood:
2	chr11:73791960..73793657-chr11:73799383..73800978,2	MCF-7	breast:
3	chr11:73789299..73790819-chr11:73795189..73797595,2	K562	blood:
4	chr11:73782168..73784901-chr11:73790303..73791833,2	K562	blood:
5	chr11:73784249..73785806-chr11:73788589..73790911,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131508	chromatin interactions
ENSG00000168014	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145915386	chr11:73790601-73790602	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554419911	chr11:73790731-73790732	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147806602	chr11:73790769-73790770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372522803	chr11:73790791-73790792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557577503	chr11:73790809-73790810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12222921	chr11:73790827-73790828	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543373273	chr11:73790843-73790844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537182766	chr11:73790909-73790910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184860369	chr11:73790914-73790915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75518211	chr11:73790924-73790925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529933316	chr11:73790935-73790936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12277407	chr11:73790958-73790959	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12277116	chr11:73790976-73790977	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188890893	chr11:73791022-73791023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141205659	chr11:73791033-73791034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12295243	chr11:73791038-73791039	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181641920	chr11:73791052-73791053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543171819	chr11:73791058-73791059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112179834	chr11:73791080-73791081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373117726	chr11:73791114-73791115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76938521	chr11:73791161-73791162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528887013	chr11:73791186-73791187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548608378	chr11:73791227-73791228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140661396	chr11:73791239-73791240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551855507	chr11:73791263-73791264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528395853	chr11:73791266-73791267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186424005	chr11:73791270-73791271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115821125	chr11:73791271-73791272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571125108	chr11:73791313-73791314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150277582	chr11:73791323-73791324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557177785	chr11:73791344-73791345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567608843	chr11:73791388-73791389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs699141	chr11:73791394-73791395	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76142426	chr11:73791468-73791469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12805428	chr11:73791469-73791470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559951527	chr11:73791478-73791479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114972063	chr11:73791546-73791547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189669216	chr11:73791631-73791632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559162446	chr11:73791636-73791637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373591835	chr11:73791653-73791654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543459912	chr11:73791659-73791660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563248917	chr11:73791745-73791746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529029901	chr11:73791774-73791775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542191985	chr11:73791816-73791817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180729787	chr11:73791826-73791827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142183258	chr11:73791896-73791897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551283333	chr11:73791920-73791921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571372746	chr11:73791955-73791956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185989454	chr11:73791965-73791966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200522082	chr11:73791976-73791977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
2	chr11:73750800-73800400	Weak transcription	HMEC	breast
3	chr11:73753200-73796400	Weak transcription	Small Intestine	intestine
4	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
5	chr11:73760000-73802600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:73768800-73798200	Weak transcription	NHEK	skin
7	chr11:73777600-73818600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:73778000-73790600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:73778200-73791000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:73778800-73792800	Strong transcription	Primary B cells from cord blood	blood
11	chr11:73779000-73792600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:73779200-73791000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:73779600-73790800	Strong transcription	Primary T cells from cord blood	blood
14	chr11:73780200-73790800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:73781200-73795800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
17	chr11:73782200-73796400	Weak transcription	Right Ventricle	heart
18	chr11:73782600-73823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:73782800-73790600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:73782800-73795400	Weak transcription	K562	blood
21	chr11:73784200-73796600	Weak transcription	Psoas Muscle	Psoas
22	chr11:73784200-73801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:73785400-73792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:73785400-73795200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:73785400-73800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:73785600-73795000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:73785600-73796800	Weak transcription	Fetal Kidney	kidney
28	chr11:73785600-73797400	Weak transcription	HUVEC	blood vessel
29	chr11:73785600-73800200	Weak transcription	NH-A	brain
30	chr11:73785600-73803400	Weak transcription	NHDF-Ad	bronchial
31	chr11:73785600-73823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:73786800-73792400	Strong transcription	HSMMtube	muscle
33	chr11:73786800-73792800	Strong transcription	HSMM	muscle
34	chr11:73787200-73795200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:73787400-73790800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr11:73787600-73793000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:73787800-73811400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:73788000-73790600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:73788200-73790800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:73788200-73792600	Strong transcription	Fetal Brain Female	brain
41	chr11:73788400-73790600	Strong transcription	Liver	Liver
42	chr11:73788400-73790600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:73788400-73790600	Strong transcription	Thymus	Thymus
44	chr11:73788400-73790800	Strong transcription	Left Ventricle	heart
45	chr11:73788400-73792600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:73789000-73790600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:73789000-73790600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:73789000-73790800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:73789400-73800800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:73789600-73791800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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