Variant report

Variant	esv3444414
Chromosome Location	chr11:71286604-71290802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71279845..71280406-chr11:71290008..71290749,2	MCF-7	breast:
2	chr11:71278628..71280477-chr11:71289049..71291000,2	MCF-7	breast:
3	chr11:71163473..71165824-chr11:71289975..71292795,2	MCF-7	breast:
4	chr11:71282448..71285837-chr11:71286010..71289392,3	MCF-7	breast:
5	chr11:71279425..71280036-chr11:71290519..71291383,2	MCF-7	breast:
6	chr11:71185954..71187783-chr11:71290414..71293087,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172890	chromatin interactions
ENSG00000248903	chromatin interactions
ENSG00000172893	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112266318	chr11:71286625-71286626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550700172	chr11:71286669-71286670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557809854	chr11:71286672-71286673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569189854	chr11:71286676-71286677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569656210	chr11:71286678-71286679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537075555	chr11:71286685-71286686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555475999	chr11:71286710-71286711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533161112	chr11:71286711-71286712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535630660	chr11:71286722-71286723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554345818	chr11:71286786-71286787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572596315	chr11:71286789-71286790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11234249	chr11:71286820-71286821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs11234250	chr11:71286867-71286868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539318818	chr11:71286880-71286881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78634616	chr11:71286882-71286883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561807007	chr11:71286919-71286920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529351520	chr11:71286933-71286934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547623425	chr11:71286955-71286956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559491939	chr11:71286985-71286986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533015832	chr11:71286992-71286993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551634283	chr11:71287033-71287034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74974901	chr11:71287123-71287124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181707060	chr11:71287168-71287169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549005281	chr11:71287186-71287187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555961375	chr11:71287187-71287188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370667392	chr11:71287193-71287194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143950115	chr11:71287218-71287219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568184531	chr11:71287252-71287253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59680508	chr11:71287281-71287282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187276618	chr11:71287315-71287316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572583549	chr11:71287365-71287366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190482387	chr11:71287406-71287407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57174796	chr11:71287421-71287422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557030194	chr11:71287447-71287448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576337690	chr11:71287449-71287450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543366443	chr11:71287451-71287452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568874335	chr11:71287501-71287502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180876426	chr11:71287567-71287568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573992352	chr11:71287568-71287569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376914928	chr11:71287575-71287576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185261315	chr11:71287620-71287621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559621037	chr11:71287665-71287666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79975759	chr11:71287684-71287685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371076669	chr11:71287698-71287699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117207652	chr11:71287702-71287703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545481514	chr11:71287730-71287731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530825917	chr11:71287780-71287781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6592226	chr11:71287831-71287832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6592227	chr11:71287837-71287838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113583026	chr11:71287843-71287844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Lung cancer	18438408	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	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
Chronic lymphocytic leukemia	22228453	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71277600-71290400	Weak transcription	Right Atrium	heart
2	chr11:71282000-71290400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:71282000-71290600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:71282600-71290400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:71285600-71291400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:71286000-71288600	Weak transcription	Fetal Kidney	kidney
7	chr11:71287000-71287600	Enhancers	Brain Germinal Matrix	brain
8	chr11:71288600-71289000	ZNF genes & repeats	Fetal Kidney	kidney
9	chr11:71288600-71289000	ZNF genes & repeats	Gastric	stomach
10	chr11:71288800-71289000	Enhancers	Esophagus	oesophagus
11	chr11:71289000-71289200	Enhancers	Fetal Heart	heart
12	chr11:71289000-71289400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:71289000-71291000	Weak transcription	Fetal Kidney	kidney
14	chr11:71289000-71291600	Weak transcription	Gastric	stomach
15	chr11:71289400-71291600	Enhancers	Fetal Muscle Leg	muscle
16	chr11:71290400-71290600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:71290400-71290600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr11:71290400-71290800	Bivalent Enhancer	Hela-S3	cervix
19	chr11:71290400-71291000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:71290400-71291000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:71290400-71291000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:71290400-71291000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:71290400-71291200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:71290400-71291200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:71290400-71291400	Enhancers	Right Atrium	heart
26	chr11:71290400-71292000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:71290400-71293400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:71290400-71293600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:71290600-71290800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:71290600-71291000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:71290600-71291000	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:71290600-71291000	Bivalent Enhancer	HepG2	liver
33	chr11:71290600-71291600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:71290600-71291800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:71290800-71291200	Enhancers	Pancreas	Pancrea
36	chr11:71290800-71291600	Enhancers	Brain Substantia Nigra	brain
37	chr11:71290800-71291800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:71290800-71292000	Enhancers	Adipose Nuclei	Adipose
39	chr11:71290800-71292000	Enhancers	GM12878-XiMat	blood

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