Variant report

Variant	esv1825019
Chromosome Location	chr3:28188563-28195579
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:

Variant related genes	Relation type
ENSG00000206559	chromatin interactions
ENSG00000163512	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560908267	chr3:28188620-28188621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377352515	chr3:28188622-28188623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529658740	chr3:28188663-28188664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187592451	chr3:28188694-28188695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6803625	chr3:28188749-28188750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192860549	chr3:28188764-28188765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147075524	chr3:28188768-28188769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185024963	chr3:28188773-28188774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552430098	chr3:28188834-28188835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189539043	chr3:28188922-28188923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534891141	chr3:28188956-28188957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138769392	chr3:28188976-28188977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79969171	chr3:28188996-28188997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536290611	chr3:28189009-28189010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556238200	chr3:28189091-28189092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576158311	chr3:28189104-28189105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142745181	chr3:28189115-28189116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150727743	chr3:28189172-28189173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572325387	chr3:28189189-28189190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541660482	chr3:28189191-28189192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375143904	chr3:28189195-28189196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529680306	chr3:28189234-28189235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549557430	chr3:28189261-28189262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563349708	chr3:28189298-28189299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532279519	chr3:28189314-28189315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552315528	chr3:28189332-28189333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565834162	chr3:28189338-28189339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571635474	chr3:28189357-28189358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139013369	chr3:28189360-28189361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374343437	chr3:28189361-28189362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200756626	chr3:28189441-28189442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548457147	chr3:28189490-28189491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149449910	chr3:28189539-28189540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536629720	chr3:28189543-28189544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181095445	chr3:28189618-28189619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184383525	chr3:28189628-28189629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368491288	chr3:28189632-28189633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546093957	chr3:28189672-28189673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12629858	chr3:28189688-28189689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559685535	chr3:28189712-28189713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572557781	chr3:28189739-28189740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57576311	chr3:28189755-28189756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555240189	chr3:28189853-28189854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188013192	chr3:28189858-28189859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72896278	chr3:28189869-28189870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181950960	chr3:28189890-28189891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572779200	chr3:28189921-28189922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532149195	chr3:28189934-28189935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151196312	chr3:28189955-28189956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115815092	chr3:28189970-28189971	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:68 , 50 per page) page: 1 2

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

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