Variant report

Variant	esv3488807
Chromosome Location	chr11:57142926-57145224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57135662..57138224-chr11:57141484..57143706,3	K562	blood:
2	chr11:57145102..57148601-chr11:57153468..57156551,3	K562	blood:
3	chr11:57143729..57146654-chr11:57150520..57152214,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561141170	chr11:57142939-57142940	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs115368553	chr11:57142940-57142941	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs1348305	chr11:57142963-57142964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147207870	chr11:57143028-57143029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139087643	chr11:57143068-57143069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373324840	chr11:57143081-57143082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180937004	chr11:57143088-57143089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547927588	chr11:57143136-57143137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566131073	chr11:57143169-57143170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536997116	chr11:57143185-57143186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548874869	chr11:57143197-57143198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569686932	chr11:57143198-57143199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371579091	chr11:57143226-57143227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10736684	chr11:57143348-57143349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75580864	chr11:57143358-57143359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10736685	chr11:57143421-57143422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553180024	chr11:57143426-57143427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12575356	chr11:57143463-57143464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542141866	chr11:57143502-57143503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556802970	chr11:57143506-57143507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149348283	chr11:57143513-57143514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534176155	chr11:57143563-57143564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185149680	chr11:57143582-57143583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189567734	chr11:57143585-57143586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148539989	chr11:57143639-57143640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184897084	chr11:57143660-57143661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72923935	chr11:57143665-57143666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532678189	chr11:57143670-57143671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541160874	chr11:57143681-57143682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189177193	chr11:57143700-57143701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111542395	chr11:57143703-57143704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201917187	chr11:57143743-57143744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181544589	chr11:57143770-57143771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184231582	chr11:57143774-57143775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189669372	chr11:57143787-57143788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111218750	chr11:57143807-57143808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183906936	chr11:57143819-57143820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200901154	chr11:57143827-57143828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62638917	chr11:57143835-57143836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201902945	chr11:57143842-57143843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111218886	chr11:57143853-57143854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111627911	chr11:57143878-57143879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201113876	chr11:57143894-57143895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12362538	chr11:57143897-57143898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186252814	chr11:57143899-57143900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113939101	chr11:57143907-57143908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200498222	chr11:57143946-57143947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191753508	chr11:57143953-57143954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190774129	chr11:57143966-57143967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376133908	chr11:57143975-57143976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57138800-57144200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:57139000-57143200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:57139200-57143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:57142600-57143000	Enhancers	Fetal Brain Female	brain
5	chr11:57142600-57143600	Enhancers	A549	lung
6	chr11:57142800-57143000	Bivalent Enhancer	Fetal Brain Male	brain
7	chr11:57142800-57143400	Enhancers	Right Ventricle	heart
8	chr11:57142800-57143600	Enhancers	Fetal Muscle Leg	muscle
9	chr11:57142800-57143800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:57142800-57144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:57143000-57143200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:57143000-57143600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:57143200-57143400	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:57143200-57144200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:57143600-57144000	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:57143600-57144600	Weak transcription	A549	lung
17	chr11:57144000-57144400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:57144000-57144400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:57144000-57144400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:57144200-57144400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:57144200-57144400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:57144200-57144400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:57144200-57144400	Enhancers	Fetal Muscle Leg	muscle
24	chr11:57144200-57144400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr11:57144200-57144600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:57144200-57144800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:57144200-57145200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:57144200-57146200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:57144400-57144600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:57144400-57144600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:57144400-57144600	Bivalent Enhancer	NHDF-Ad	bronchial
32	chr11:57144400-57144800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr11:57144400-57144800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr11:57144600-57144800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr11:57144600-57144800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:57144600-57145800	Enhancers	A549	lung
37	chr11:57144800-57145000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
38	chr11:57144800-57154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:57145000-57145800	Enhancers	HepG2	liver
40	chr11:57145000-57146200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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