Variant report

Variant	esv3322110
Chromosome Location	chr11:93510554-93512502
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	BHLHE40	chr11:93510592-93510790	K562	blood:	n/a	n/a
2	CEBPB	chr11:93510432-93510648	HepG2	liver:	n/a	chr11:93510490-93510501
3	CEBPB	chr11:93510333-93510621	K562	blood:	n/a	chr11:93510490-93510501
4	RCOR1	chr11:93510695-93510769	K562	blood:	n/a	n/a
5	USF1	chr11:93510579-93510911	K562	blood:	n/a	n/a
6	USF1	chr11:93510487-93510836	K562	blood:	n/a	n/a
7	ZNF384	chr11:93510872-93511035	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93507107..93508647-chr11:93509097..93511898,2	K562	blood:
2	chr11:93512153..93515814-chr11:93515942..93518235,3	K562	blood:
3	chr11:93459822..93462778-chr11:93509047..93511510,2	K562	blood:
4	chr11:93508723..93511571-chr11:93516504..93518182,2	MCF-7	breast:

Variant related genes	Relation type
MED17	TF binding region
ENSG00000166012	chromatin interactions
ENSG00000042429	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72976543	chr11:93510565-93510566	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371481369	chr11:93510614-93510615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577326497	chr11:93510628-93510629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs664647	chr11:93510634-93510635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146273771	chr11:93510635-93510636	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200173841	chr11:93510647-93510648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200697487	chr11:93510648-93510649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs664619	chr11:93510656-93510657	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs115718697	chr11:93510676-93510677	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs66483735	chr11:93510681-93510682	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560347369	chr11:93510694-93510695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs554827387	chr11:93510709-93510710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12789613	chr11:93510721-93510722	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12788872	chr11:93510722-93510723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79201304	chr11:93510753-93510754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539961046	chr11:93510766-93510767	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs622231	chr11:93510795-93510796	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs66797025	chr11:93510804-93510805	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563247790	chr11:93510822-93510823	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550257724	chr11:93510834-93510835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs142579817	chr11:93510844-93510845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529980854	chr11:93510852-93510853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs622147	chr11:93510858-93510859	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs645992	chr11:93510877-93510878	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146010691	chr11:93510884-93510885	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142139812	chr11:93510918-93510919	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113646550	chr11:93510964-93510965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577692113	chr11:93510975-93510976	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149102102	chr11:93510989-93510990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552713559	chr11:93511018-93511019	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570912201	chr11:93511025-93511026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538335951	chr11:93511026-93511027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200537051	chr11:93511052-93511053	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545861719	chr11:93511053-93511054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs4753103	chr11:93511119-93511120	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs574759295	chr11:93511135-93511136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs4753104	chr11:93511284-93511285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs185920086	chr11:93511291-93511292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs60567391	chr11:93511313-93511314	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58214648	chr11:93511315-93511316	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs60829358	chr11:93511317-93511318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs57614311	chr11:93511319-93511320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs60413822	chr11:93511321-93511322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs61557506	chr11:93511323-93511324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs61090970	chr11:93511325-93511326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545096785	chr11:93511327-93511328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs58924527	chr11:93511329-93511330	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs557373659	chr11:93511331-93511332	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376579996	chr11:93511333-93511334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370801705	chr11:93511335-93511336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93492200-93516600	Weak transcription	Psoas Muscle	Psoas
2	chr11:93492200-93516800	Weak transcription	Right Ventricle	heart
3	chr11:93496000-93513600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:93498000-93516600	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:93498600-93516600	Weak transcription	Hela-S3	cervix
6	chr11:93499200-93516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:93499800-93516600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:93505800-93516600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:93506200-93516600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:93506400-93516600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:93506600-93516600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:93506600-93516600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:93506800-93513000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:93506800-93513200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:93506800-93516600	Weak transcription	Brain Germinal Matrix	brain
16	chr11:93507600-93516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:93510400-93516400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:93512000-93516600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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