Variant report

Variant	esv3357156
Chromosome Location	chr11:63880926-63883724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63882915..63884582-chr11:63898261..63900223,2	MCF-7	breast:
2	chr11:63871768..63873889-chr11:63882360..63884841,2	K562	blood:
3	chr11:63751447..63755451-chr11:63882751..63885607,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167770	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548042849	chr11:63880950-63880951	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112667163	chr11:63880970-63880971	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs367827221	chr11:63880982-63880983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs548242346	chr11:63880986-63880987	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568562217	chr11:63880999-63881000	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4053471	chr11:63881012-63881013	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550646798	chr11:63881064-63881065	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200920945	chr11:63881074-63881075	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138402349	chr11:63881076-63881077	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111218944	chr11:63881081-63881082	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557476008	chr11:63881119-63881120	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570740631	chr11:63881120-63881121	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181304363	chr11:63881130-63881131	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553672012	chr11:63881172-63881173	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185856408	chr11:63881176-63881177	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567014947	chr11:63881177-63881178	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372350635	chr11:63881204-63881205	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376918299	chr11:63881227-63881228	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62644043	chr11:63881283-63881284	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138768566	chr11:63881295-63881296	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200381430	chr11:63881296-63881297	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572595392	chr11:63881343-63881344	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202172057	chr11:63881344-63881345	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148072020	chr11:63881345-63881346	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201094498	chr11:63881352-63881353	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111210934	chr11:63881353-63881354	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575425090	chr11:63881381-63881382	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562555774	chr11:63881409-63881410	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544355574	chr11:63881410-63881411	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557863209	chr11:63881415-63881416	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577957538	chr11:63881436-63881437	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540418958	chr11:63881481-63881482	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386754318	chr11:63881483-63881484	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140487195	chr11:63881484-63881485	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111210935	chr11:63881491-63881492	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369222658	chr11:63881497-63881498	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141795536	chr11:63881528-63881529	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575143969	chr11:63881531-63881532	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560399807	chr11:63881534-63881535	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529148950	chr11:63881539-63881540	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61724501	chr11:63881565-63881566	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542224712	chr11:63881605-63881606	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561976568	chr11:63881628-63881629	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530794889	chr11:63881642-63881643	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550710524	chr11:63881648-63881649	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564233930	chr11:63881659-63881660	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373266017	chr11:63881706-63881707	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139072150	chr11:63881728-63881729	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199690741	chr11:63881730-63881731	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200431737	chr11:63881733-63881734	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Pituitary adenoma	18645599	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	21785460	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
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63866400-63887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:63867000-63882800	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:63870000-63884400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:63871200-63884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:63871400-63881000	Weak transcription	Gastric	stomach
6	chr11:63872200-63882400	Weak transcription	Fetal Brain Female	brain
7	chr11:63872800-63883600	Weak transcription	Pancreas	Pancrea
8	chr11:63873400-63886800	Weak transcription	Colonic Mucosa	Colon
9	chr11:63873800-63884200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:63874000-63884200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:63874200-63881200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:63874200-63882800	Weak transcription	Fetal Stomach	stomach
13	chr11:63874200-63883400	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:63874200-63883800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:63874200-63883800	Weak transcription	Brain Substantia Nigra	brain
16	chr11:63875400-63883000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:63875400-63896200	Weak transcription	Spleen	Spleen
18	chr11:63875600-63886800	Weak transcription	HSMMtube	muscle
19	chr11:63876200-63884200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:63877200-63881200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:63877400-63882800	Weak transcription	Fetal Heart	heart
22	chr11:63877400-63883800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:63878800-63882200	Weak transcription	Brain Germinal Matrix	brain
24	chr11:63878800-63882400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:63879200-63888400	Weak transcription	Left Ventricle	heart
26	chr11:63879400-63881400	Weak transcription	Esophagus	oesophagus
27	chr11:63879400-63882800	Weak transcription	Fetal Intestine Small	intestine
28	chr11:63879400-63884400	Weak transcription	Right Ventricle	heart
29	chr11:63879600-63885800	Weak transcription	HepG2	liver
30	chr11:63879600-63886200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:63879600-63890200	Weak transcription	Liver	Liver
32	chr11:63879800-63891600	Weak transcription	Primary T cells from cord blood	blood
33	chr11:63880200-63883000	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:63880400-63882200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:63880400-63882400	Strong transcription	Aorta	Aorta
36	chr11:63880600-63884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:63880800-63881400	ZNF genes & repeats	Hela-S3	cervix
38	chr11:63880800-63882800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:63881000-63882200	ZNF genes & repeats	Fetal Kidney	kidney
40	chr11:63881000-63882200	Genic enhancers	Gastric	stomach
41	chr11:63881200-63882200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:63881200-63883000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:63881200-63888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:63881400-63881800	ZNF genes & repeats	Esophagus	oesophagus
45	chr11:63881400-63883400	Weak transcription	Hela-S3	cervix
46	chr11:63881800-63883000	Weak transcription	Esophagus	oesophagus
47	chr11:63881800-63891800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:63882200-63883000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:63882200-63883600	Enhancers	Brain Germinal Matrix	brain
50	chr11:63882200-63884000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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