Variant report

Variant	esv1828286
Chromosome Location	chr3:28191703-28197560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000206559	chromatin interactions
ENSG00000163512	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9852732	chr3:28191703-28191704	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540112211	chr3:28191746-28191747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553635280	chr3:28191794-28191795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150182151	chr3:28191837-28191838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147957231	chr3:28191880-28191881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555164332	chr3:28191899-28191900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17021168	chr3:28191945-28191946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185387637	chr3:28191976-28191977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563903302	chr3:28191981-28191982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76205624	chr3:28191998-28191999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540108919	chr3:28192012-28192013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375251095	chr3:28192025-28192026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548289501	chr3:28192046-28192047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74584763	chr3:28192058-28192059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189737259	chr3:28192093-28192094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542237053	chr3:28192121-28192122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183504870	chr3:28192145-28192146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530898810	chr3:28192216-28192217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539275853	chr3:28192233-28192234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187837918	chr3:28192315-28192316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552732949	chr3:28192336-28192337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571012050	chr3:28192399-28192400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533584763	chr3:28192417-28192418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546965673	chr3:28192465-28192466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141853007	chr3:28192611-28192612	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75233056	chr3:28192633-28192634	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555373371	chr3:28192666-28192667	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193196483	chr3:28192667-28192668	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537519169	chr3:28192705-28192706	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147098052	chr3:28192707-28192708	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557433215	chr3:28192733-28192734	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368002006	chr3:28192745-28192746	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372094710	chr3:28192805-28192806	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376390057	chr3:28192812-28192813	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370004066	chr3:28192831-28192832	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374340018	chr3:28192844-28192845	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562037392	chr3:28192845-28192846	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376593399	chr3:28192853-28192854	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561729696	chr3:28192896-28192897	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111242161	chr3:28192911-28192912	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544679597	chr3:28192913-28192914	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183436079	chr3:28192946-28192947	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188497146	chr3:28193162-28193163	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138465695	chr3:28193175-28193176	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372577585	chr3:28193215-28193216	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570809783	chr3:28193216-28193217	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547197363	chr3:28193290-28193291	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142766501	chr3:28193355-28193356	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567035419	chr3:28193393-28193394	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529555501	chr3:28193577-28193578	Flanking Active TSS Active TSS Enhancers Weak transcription	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:67 , 50 per page) page: 1 2

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

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