Variant report

Variant	esv3454597
Chromosome Location	chr11:66709576-66715174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66712628..66714524-chr11:66717181..66719524,2	K562	blood:
2	chr11:66706455..66708855-chr11:66714725..66717301,2	K562	blood:
3	chr11:66712970..66715747-chr11:66721336..66723431,2	K562	blood:
4	chr11:66701734..66705624-chr11:66714947..66717846,5	MCF-7	breast:
5	chr11:66712201..66714524-chr11:66716191..66718681,3	K562	blood:

Variant related genes	Relation type
ENSG00000173599	chromatin interactions
ENSG00000266423	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:215 , 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	rs543372537	chr11:66709606-66709607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563560692	chr11:66709618-66709619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532377340	chr11:66709621-66709622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186003710	chr11:66709651-66709652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565822005	chr11:66709652-66709653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377746780	chr11:66709665-66709666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369284903	chr11:66709689-66709690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369990483	chr11:66709704-66709705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543271274	chr11:66709713-66709714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7936290	chr11:66709727-66709728	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs569516898	chr11:66709733-66709734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556610881	chr11:66709744-66709745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376316387	chr11:66709849-66709850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562417200	chr11:66709858-66709859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577741732	chr11:66709870-66709871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79851483	chr11:66709872-66709873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569990140	chr11:66709906-66709907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538889839	chr11:66709955-66709956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145136010	chr11:66709974-66709975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57630565	chr11:66710010-66710011	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532302024	chr11:66710014-66710015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541795181	chr11:66710025-66710026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190481675	chr11:66710077-66710078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547371031	chr11:66710088-66710089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574775381	chr11:66710236-66710237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147710294	chr11:66710258-66710259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182261945	chr11:66710273-66710274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577201421	chr11:66710280-66710281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546080864	chr11:66710380-66710381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113370634	chr11:66710413-66710414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141061800	chr11:66710468-66710469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373572519	chr11:66710500-66710501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150512448	chr11:66710501-66710502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528265378	chr11:66710525-66710526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527540605	chr11:66710533-66710534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547460747	chr11:66710540-66710541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547998455	chr11:66710572-66710573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530443410	chr11:66710627-66710628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530448656	chr11:66710663-66710664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369024427	chr11:66710688-66710689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76102123	chr11:66710690-66710691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570052956	chr11:66710703-66710704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202011392	chr11:66710751-66710752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140886046	chr11:66710752-66710753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538956026	chr11:66710766-66710767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149845741	chr11:66710843-66710844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76310383	chr11:66710849-66710850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535183787	chr11:66710888-66710889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537635310	chr11:66710891-66710892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554794180	chr11:66710931-66710932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66689200-66719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:66694400-66718000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:66696800-66717600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:66696800-66717600	Weak transcription	NHDF-Ad	bronchial
5	chr11:66701200-66712400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:66701200-66724200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:66701600-66717600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:66701800-66717600	Weak transcription	HSMMtube	muscle
9	chr11:66701800-66719600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:66702600-66717600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:66702600-66717600	Weak transcription	Gastric	stomach
12	chr11:66702800-66717600	Weak transcription	NHEK	skin
13	chr11:66702800-66718200	Weak transcription	Fetal Brain Female	brain
14	chr11:66702800-66723600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:66703000-66717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:66703000-66717800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:66703200-66709800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:66703200-66717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:66703200-66718400	Weak transcription	Ovary	ovary
20	chr11:66703400-66714200	Weak transcription	Adipose Nuclei	Adipose
21	chr11:66703400-66717400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:66703800-66714000	Weak transcription	Osteobl	bone
23	chr11:66704200-66717400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:66704200-66717600	Weak transcription	NHLF	lung
25	chr11:66704400-66710000	Weak transcription	Liver	Liver
26	chr11:66704400-66717400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:66704400-66717600	Weak transcription	HepG2	liver
28	chr11:66704800-66709600	Weak transcription	Right Ventricle	heart
29	chr11:66705000-66717400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:66705000-66717600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:66705000-66717600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:66705200-66713600	Weak transcription	A549	lung
33	chr11:66705200-66717400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:66705600-66717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:66706600-66719400	Weak transcription	Fetal Heart	heart
36	chr11:66707000-66717200	Weak transcription	K562	blood
37	chr11:66707200-66710000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:66707400-66717800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:66707400-66717800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:66707600-66712200	Weak transcription	Hela-S3	cervix
41	chr11:66707800-66715400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:66708000-66724200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:66708200-66724200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:66708600-66710800	Weak transcription	Fetal Stomach	stomach
45	chr11:66708600-66711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:66708600-66717400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:66708600-66724200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:66708600-66724200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:66708800-66714200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:66708800-66718400	Weak transcription	Stomach Mucosa	stomach

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