Variant report

Variant	nsv230
Chromosome Location	chr3:28183919-28198991
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	chr3:28192472..28194097-chr3:28198773..28201544,2	K562	blood:
3	chr3:28196891..28198936-chr3:28200402..28202674,2	K562	blood:
4	chr13:106865241..106865855-chr3:28191390..28192230,2	HCT-116	colon:
5	chr3:28194249..28196300-chr3:28389824..28392294,2	K562	blood:

Variant related genes	Relation type
ENSG00000163512	chromatin interactions
ENSG00000206559	chromatin interactions

Extended variants
information (count: 519 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138881573	chr3:28184039-28184040	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567534954	chr3:28184047-28184048	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190638377	chr3:28184087-28184088	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555004952	chr3:28184089-28184090	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536825614	chr3:28184092-28184093	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568509861	chr3:28184120-28184121	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537630838	chr3:28184158-28184159	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557307257	chr3:28184174-28184175	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536185438	chr3:28184177-28184178	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577528721	chr3:28184182-28184183	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556457492	chr3:28184241-28184242	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546494987	chr3:28184248-28184249	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182872968	chr3:28184272-28184273	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187207896	chr3:28184348-28184349	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541503573	chr3:28184349-28184350	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113309625	chr3:28184391-28184392	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190140829	chr3:28184416-28184417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113779354	chr3:28184438-28184439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143182083	chr3:28184439-28184440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563901265	chr3:28184446-28184447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532981603	chr3:28184489-28184490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546441502	chr3:28184598-28184599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375186503	chr3:28184629-28184630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528465795	chr3:28184640-28184641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548321363	chr3:28184643-28184644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568527570	chr3:28184647-28184648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537115664	chr3:28184708-28184709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147170246	chr3:28184734-28184735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557452613	chr3:28184738-28184739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571012043	chr3:28184903-28184904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544952415	chr3:28184977-28184978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540049012	chr3:28184978-28184979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182828739	chr3:28185034-28185035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79482806	chr3:28185094-28185095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535405950	chr3:28185146-28185147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555100682	chr3:28185198-28185199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17021161	chr3:28185208-28185209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543943615	chr3:28185209-28185210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563841821	chr3:28185219-28185220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577376157	chr3:28185245-28185246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371524861	chr3:28185272-28185273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187942697	chr3:28185317-28185318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192227555	chr3:28185332-28185333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9848486	chr3:28185335-28185336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140357096	chr3:28185412-28185413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188744785	chr3:28185446-28185447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371766221	chr3:28185517-28185518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551056403	chr3:28185545-28185546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372927273	chr3:28185566-28185567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192344467	chr3:28185574-28185575	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28182200-28184000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:28182400-28184000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:28183200-28184000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:28183800-28184000	Enhancers	Fetal Lung	lung
5	chr3:28184000-28184200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:28184000-28184400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:28184000-28184400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:28184200-28184400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:28184400-28184600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:28184600-28186600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:28186600-28187600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:28187600-28191600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:28190800-28191200	ZNF genes & repeats	Aorta	Aorta
14	chr3:28190800-28191600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr3:28190800-28193400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr3:28191200-28192200	Enhancers	Fetal Lung	lung
17	chr3:28191600-28191800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr3:28191600-28192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:28191600-28192800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:28191600-28193200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:28191800-28192200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr3:28191800-28192600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:28192200-28192600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:28192400-28192600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:28192400-28193200	Enhancers	Adipose Nuclei	Adipose
26	chr3:28192400-28193200	Enhancers	Dnd41	blood
27	chr3:28192400-28194000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:28192600-28192800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:28192600-28193000	Enhancers	NHDF-Ad	bronchial
30	chr3:28192600-28193200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:28192600-28193200	Enhancers	Liver	Liver
32	chr3:28192600-28193200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr3:28192600-28193600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:28192600-28194000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:28192600-28194200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:28192600-28194200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr3:28192600-28194200	Enhancers	Small Intestine	intestine
38	chr3:28192800-28193200	Enhancers	GM12878-XiMat	blood
39	chr3:28192800-28193400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:28192800-28193600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:28192800-28193600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:28193000-28193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:28193000-28193800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:28193200-28193400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr3:28193200-28193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:28193200-28193400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr3:28193200-28193600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:28193200-28193600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:28193200-28193600	Active TSS	Liver	Liver
50	chr3:28193200-28193600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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