Variant report

Variant	esv3409146
Chromosome Location	chr11:86208841-86209438
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	EP300	chr11:86208096-86208918	MCF-7	breast:	n/a	n/a
2	EP300	chr11:86208399-86208925	ECC-1	luminal epithelium:	n/a	n/a
3	GATA3	chr11:86208113-86208951	MCF-7	breast:	n/a	n/a
4	NR2F2	chr11:86208331-86209236	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:86209159-86209190	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:86209010-86209158	MCF-7	breast:	n/a	n/a
7	TCF12	chr11:86208210-86208919	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr11:86208337-86208912	ECC-1	luminal epithelium:	n/a	n/a
9	TFAP2C	chr11:86208127-86208975	Hela-S3	cervix:	n/a	n/a
10	WRNIP1	chr11:86209085-86209228	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86209247..86211333-chr11:86213787..86215304,2	K562	blood:
2	chr11:86208558..86211731-chr11:86511256..86513544,4	MCF-7	breast:

Variant related genes	Relation type
ME3	TF binding region
ENSG00000150687	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76303955	chr11:86208844-86208845	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140851027	chr11:86208849-86208850	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564232119	chr11:86208857-86208858	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532962945	chr11:86208880-86208881	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540458943	chr11:86208881-86208882	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs609848	chr11:86208897-86208898	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs529249561	chr11:86208954-86208955	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200934435	chr11:86209022-86209023	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115220216	chr11:86209028-86209029	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34902539	chr11:86209035-86209036	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201638333	chr11:86209051-86209052	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149425348	chr11:86209065-86209066	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374857434	chr11:86209071-86209072	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200020234	chr11:86209092-86209093	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35059554	chr11:86209110-86209111	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369256814	chr11:86209120-86209121	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138449690	chr11:86209128-86209129	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144016758	chr11:86209129-86209130	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534121698	chr11:86209161-86209162	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147260252	chr11:86209164-86209165	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375985927	chr11:86209196-86209197	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369270609	chr11:86209212-86209213	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553991907	chr11:86209216-86209217	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371048026	chr11:86209243-86209244	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536506489	chr11:86209248-86209249	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556452588	chr11:86209255-86209256	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547326784	chr11:86209276-86209277	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575101314	chr11:86209295-86209296	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142792503	chr11:86209314-86209315	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557549508	chr11:86209318-86209319	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79241234	chr11:86209327-86209328	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540428235	chr11:86209346-86209347	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147396683	chr11:86209387-86209388	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117143649	chr11:86209410-86209411	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:86198000-86211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:86198200-86210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
12	chr11:86201400-86210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:86202400-86210000	Weak transcription	Fetal Intestine Large	intestine
14	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
15	chr11:86204000-86209400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:86204200-86210800	Weak transcription	Fetal Heart	heart
18	chr11:86204600-86220000	Weak transcription	Colonic Mucosa	Colon
19	chr11:86204800-86209200	Weak transcription	Left Ventricle	heart
20	chr11:86206200-86209000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:86206600-86210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:86206600-86210600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:86206800-86214200	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:86206800-86214600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:86206800-86214800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:86207000-86213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:86207400-86209400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:86207800-86209400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:86207800-86209800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr11:86208000-86209000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:86208000-86209000	Enhancers	NHEK	skin
32	chr11:86208000-86209200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:86208000-86209200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:86208000-86209200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:86208000-86209200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr11:86208000-86209200	Enhancers	HMEC	breast
37	chr11:86208000-86209400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:86208000-86209600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:86208000-86209600	Enhancers	Placenta	Placenta
40	chr11:86208200-86209000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:86208200-86209000	Strong transcription	Pancreas	Pancrea
42	chr11:86208200-86209200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:86208200-86209200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:86208200-86209200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:86208200-86209200	Enhancers	Adipose Nuclei	Adipose
46	chr11:86208200-86209200	Strong transcription	Fetal Stomach	stomach
47	chr11:86208200-86209200	Genic enhancers	Lung	lung
48	chr11:86208200-86209200	Enhancers	Hela-S3	cervix
49	chr11:86208200-86209200	Enhancers	NH-A	brain
50	chr11:86208200-86209200	Enhancers	NHLF	lung

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