Variant report

Variant	esv1830512
Chromosome Location	chr3:28186184-28197089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:106865241..106865855-chr3:28191390..28192230,2	HCT-116	colon:
2	chr3:28196891..28198936-chr3:28200402..28202674,2	K562	blood:
3	chr3:28194249..28196300-chr3:28389824..28392294,2	K562	blood:
4	chr3:28192472..28194097-chr3:28198773..28201544,2	K562	blood:

Variant related genes	Relation type
ENSG00000206559	chromatin interactions
ENSG00000163512	chromatin interactions

Extended variants
information (count: 376 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533497857	chr3:28186202-28186203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368975158	chr3:28186230-28186231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547128335	chr3:28186241-28186242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184637936	chr3:28186256-28186257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189573117	chr3:28186260-28186261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150990945	chr3:28186272-28186273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543632358	chr3:28186380-28186381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370559859	chr3:28186384-28186385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541144467	chr3:28186414-28186415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565158302	chr3:28186417-28186418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569572516	chr3:28186424-28186425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201561422	chr3:28186425-28186426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537444123	chr3:28186436-28186437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146141201	chr3:28186437-28186438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557366957	chr3:28186438-28186439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570927134	chr3:28186446-28186447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201216044	chr3:28186450-28186451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142841544	chr3:28186458-28186459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563324322	chr3:28186459-28186460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369102945	chr3:28186460-28186461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111458775	chr3:28186461-28186462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545776174	chr3:28186479-28186480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199517985	chr3:28186480-28186481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180809723	chr3:28186481-28186482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200540092	chr3:28186496-28186497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573894611	chr3:28186497-28186498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564940452	chr3:28186498-28186499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187661530	chr3:28186501-28186502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573716097	chr3:28186511-28186512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373994463	chr3:28186512-28186513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527644819	chr3:28186526-28186527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556182778	chr3:28186564-28186565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115028983	chr3:28186584-28186585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373210119	chr3:28186587-28186588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190901417	chr3:28186636-28186637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181747554	chr3:28186677-28186678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377689997	chr3:28186688-28186689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533383409	chr3:28186758-28186759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112293666	chr3:28186789-28186790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371289462	chr3:28186851-28186852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77256271	chr3:28186889-28186890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190376495	chr3:28186923-28186924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374716621	chr3:28186925-28186926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183371073	chr3:28186927-28186928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543382966	chr3:28186930-28186931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187909144	chr3:28186957-28186958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374051294	chr3:28186960-28186961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201959846	chr3:28186961-28186962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9816908	chr3:28186978-28186979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75195167	chr3:28187040-28187041	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28184600-28186600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:28186600-28187600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:28187600-28191600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:28190800-28191200	ZNF genes & repeats	Aorta	Aorta
5	chr3:28190800-28191600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr3:28190800-28193400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr3:28191200-28192200	Enhancers	Fetal Lung	lung
8	chr3:28191600-28191800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr3:28191600-28192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:28191600-28192800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:28191600-28193200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:28191800-28192200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:28191800-28192600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:28192200-28192600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:28192400-28192600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:28192400-28193200	Enhancers	Adipose Nuclei	Adipose
17	chr3:28192400-28193200	Enhancers	Dnd41	blood
18	chr3:28192400-28194000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:28192600-28192800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr3:28192600-28193000	Enhancers	NHDF-Ad	bronchial
21	chr3:28192600-28193200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:28192600-28193200	Enhancers	Liver	Liver
23	chr3:28192600-28193200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr3:28192600-28193600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:28192600-28194000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:28192600-28194200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:28192600-28194200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:28192600-28194200	Enhancers	Small Intestine	intestine
29	chr3:28192800-28193200	Enhancers	GM12878-XiMat	blood
30	chr3:28192800-28193400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:28192800-28193600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:28192800-28193600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:28193000-28193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:28193000-28193800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:28193200-28193400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr3:28193200-28193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:28193200-28193400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr3:28193200-28193600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:28193200-28193600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:28193200-28193600	Active TSS	Liver	Liver
41	chr3:28193200-28193600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:28193200-28193600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr3:28193200-28193800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr3:28193200-28193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:28193200-28193800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr3:28193200-28193800	Active TSS	Brain Anterior Caudate	brain
47	chr3:28193200-28193800	Active TSS	NHDF-Ad	bronchial
48	chr3:28193200-28194000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:28193200-28194000	Active TSS	GM12878-XiMat	blood
50	chr3:28193200-28194200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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