Variant report

Variant	esv21351
Chromosome Location	chr3:28187000-28197678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000163512	chromatin interactions
ENSG00000206559	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75195167	chr3:28187040-28187041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191181487	chr3:28187073-28187074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80075068	chr3:28187113-28187114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35329873	chr3:28187154-28187155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10663239	chr3:28187165-28187166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563640875	chr3:28187166-28187167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182568338	chr3:28187167-28187168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577424514	chr3:28187169-28187170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141670801	chr3:28187173-28187174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61345532	chr3:28187180-28187181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563991305	chr3:28187189-28187190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533555818	chr3:28187199-28187200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553579975	chr3:28187202-28187203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567403525	chr3:28187277-28187278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536039840	chr3:28187355-28187356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150768069	chr3:28187383-28187384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79179154	chr3:28187388-28187389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80337081	chr3:28187389-28187390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62250522	chr3:28187390-28187391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556355665	chr3:28187399-28187400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576171367	chr3:28187409-28187410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116129090	chr3:28187422-28187423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146817519	chr3:28187492-28187493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35324234	chr3:28187536-28187537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539318741	chr3:28187538-28187539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140609355	chr3:28187556-28187557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559257563	chr3:28187567-28187568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560378831	chr3:28187642-28187643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145660518	chr3:28187644-28187645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542771406	chr3:28187663-28187664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145183983	chr3:28187685-28187686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149226631	chr3:28187708-28187709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551618724	chr3:28187757-28187758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571650999	chr3:28187778-28187779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527290658	chr3:28187790-28187791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547399857	chr3:28187796-28187797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397875125	chr3:28187884-28187885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373378917	chr3:28187902-28187903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567236147	chr3:28187919-28187920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563921198	chr3:28187961-28187962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143405606	chr3:28187982-28187983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375980370	chr3:28188022-28188023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186622472	chr3:28188071-28188072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558881658	chr3:28188123-28188124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572416889	chr3:28188224-28188225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533918605	chr3:28188225-28188226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554102813	chr3:28188230-28188231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113158861	chr3:28188238-28188239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148368293	chr3:28188260-28188261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562851273	chr3:28188402-28188403	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:71 , 50 per page) page: 1 2

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

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