Variant report

Variant	esv3489469
Chromosome Location	chr11:63698905-63701657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:63700787-63700894	GM13976	blood:	n/a	n/a
2	CTCF	chr11:63700141-63700190	GM10266	blood:	n/a	n/a
3	MAX	chr11:63699539-63699661	NB4	blood:	n/a	chr11:63699553-63699563
4	MYC	chr11:63701314-63701373	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:63700246-63700415	Hela-S3	cervix:	n/a	n/a
6	ZNF263	chr11:63699426-63699881	HEK293-T-REx	kidney:	n/a	chr11:63699701-63699710 chr11:63699679-63699688 chr11:63699680-63699701

No.	Distal block	Cell Line	Cell type
1	chr11:63685870..63687759-chr11:63698939..63701005,2	MCF-7	breast:
2	chr11:63697160..63699564-chr11:63703957..63705699,2	MCF-7	breast:
3	chr11:63604437..63605387-chr11:63701185..63702224,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RCOR2-2	chr11:63700871-63701043	l_489_chr11:63700870-63707041_76bGuttman_hES

Variant related genes	Relation type
NAA40	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138206152	chr11:63698906-63698907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200641359	chr11:63698910-63698911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539983870	chr11:63698954-63698955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557497365	chr11:63699007-63699008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559904541	chr11:63699008-63699009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529012553	chr11:63699013-63699014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542414050	chr11:63699020-63699021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562411366	chr11:63699074-63699075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201605443	chr11:63699088-63699089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113203708	chr11:63699105-63699106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531522371	chr11:63699128-63699129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536705982	chr11:63699153-63699154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553203567	chr11:63699214-63699215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7112935	chr11:63699222-63699223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573181135	chr11:63699227-63699228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7116315	chr11:63699235-63699236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11231644	chr11:63699306-63699307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547156938	chr11:63699385-63699386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566980654	chr11:63699471-63699472	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs536012216	chr11:63699489-63699490	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs549621366	chr11:63699491-63699492	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs372558724	chr11:63699494-63699495	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs141234434	chr11:63699511-63699512	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs57548015	chr11:63699553-63699554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557715822	chr11:63699565-63699566	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs375625950	chr11:63699571-63699572	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs577614669	chr11:63699576-63699577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs533789996	chr11:63699643-63699644	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs558410371	chr11:63699694-63699695	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs553401318	chr11:63699695-63699696	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs144958249	chr11:63699729-63699730	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs140787949	chr11:63699758-63699759	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs386754307	chr11:63699759-63699760	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs7130472	chr11:63699760-63699761	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374009946	chr11:63699768-63699769	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs138959933	chr11:63699775-63699776	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs576263308	chr11:63699805-63699806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545021207	chr11:63699917-63699918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59642000	chr11:63700010-63700011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35237796	chr11:63700034-63700035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12418000	chr11:63700056-63700057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4980509	chr11:63700057-63700058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374269611	chr11:63700064-63700065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560543670	chr11:63700065-63700066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201279366	chr11:63700075-63700076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529424615	chr11:63700101-63700102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191375977	chr11:63700102-63700103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569382185	chr11:63700136-63700137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538531371	chr11:63700214-63700215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551744567	chr11:63700219-63700220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63697000-63705600	Weak transcription	Right Atrium	heart
2	chr11:63698400-63699000	Enhancers	Fetal Stomach	stomach
3	chr11:63698400-63699200	Enhancers	Fetal Lung	lung
4	chr11:63698400-63699800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:63698400-63699800	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:63698400-63699800	Enhancers	Fetal Muscle Leg	muscle
7	chr11:63698600-63699000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:63698600-63699400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:63698600-63700000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:63698600-63700200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:63698800-63705600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:63698800-63705600	Weak transcription	Esophagus	oesophagus
13	chr11:63699000-63699400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:63699000-63700000	Enhancers	Placenta	Placenta
15	chr11:63699000-63701000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:63699000-63705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:63699200-63699600	Weak transcription	Fetal Lung	lung
18	chr11:63699200-63700000	Enhancers	Fetal Brain Male	brain
19	chr11:63699400-63699600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:63699400-63699600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:63699400-63699600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:63699400-63699600	Enhancers	Stomach Smooth Muscle	stomach
23	chr11:63699400-63699800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:63699400-63699800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:63699600-63699800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:63699600-63699800	Enhancers	Fetal Lung	lung
27	chr11:63699600-63701200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:63699600-63705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:63699600-63705600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:63699800-63700800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:63699800-63702800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:63699800-63705200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:63699800-63705600	Weak transcription	Fetal Lung	lung
34	chr11:63699800-63705600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:63700000-63701000	Weak transcription	Placenta	Placenta
36	chr11:63700000-63705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:63700200-63700400	Weak transcription	Fetal Brain Male	brain
38	chr11:63700200-63700600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:63700600-63702800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:63700800-63701200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:63700800-63702400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:63700800-63702400	Enhancers	Osteobl	bone
43	chr11:63701000-63701200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:63701000-63701200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:63701000-63701200	Enhancers	NH-A	brain
46	chr11:63701000-63701400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:63701000-63701400	Enhancers	Left Ventricle	heart
48	chr11:63701000-63701600	Enhancers	Adipose Nuclei	Adipose
49	chr11:63701000-63702200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:63701000-63702200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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