Variant report

Variant	nsv435751
Chromosome Location	chr3:28185421-28197849
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	chr3:28194249..28196300-chr3:28389824..28392294,2	K562	blood:
3	chr3:28192472..28194097-chr3:28198773..28201544,2	K562	blood:
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: 434 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188744785	chr3:28185446-28185447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371766221	chr3:28185517-28185518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551056403	chr3:28185545-28185546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372927273	chr3:28185566-28185567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192344467	chr3:28185574-28185575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144204890	chr3:28185603-28185604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368047535	chr3:28185606-28185607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567152899	chr3:28185625-28185626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144440114	chr3:28185706-28185707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558567424	chr3:28185712-28185713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535737770	chr3:28185714-28185715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556044143	chr3:28185759-28185760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572020618	chr3:28185804-28185805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575082157	chr3:28185825-28185826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578062680	chr3:28185828-28185829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368839956	chr3:28185849-28185850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557420862	chr3:28185862-28185863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539224394	chr3:28185873-28185874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184556676	chr3:28185898-28185899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540025091	chr3:28185932-28185933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559882039	chr3:28185942-28185943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188924300	chr3:28185954-28185955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11341987	chr3:28185985-28185986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114764535	chr3:28185997-28185998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148492424	chr3:28186013-28186014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142674379	chr3:28186019-28186020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181329122	chr3:28186067-28186068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552884818	chr3:28186071-28186072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574708558	chr3:28186080-28186081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564547834	chr3:28186111-28186112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533497857	chr3:28186202-28186203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368975158	chr3:28186230-28186231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547128335	chr3:28186241-28186242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184637936	chr3:28186256-28186257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189573117	chr3:28186260-28186261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150990945	chr3:28186272-28186273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543632358	chr3:28186380-28186381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370559859	chr3:28186384-28186385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541144467	chr3:28186414-28186415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565158302	chr3:28186417-28186418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569572516	chr3:28186424-28186425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201561422	chr3:28186425-28186426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537444123	chr3:28186436-28186437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146141201	chr3:28186437-28186438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557366957	chr3:28186438-28186439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570927134	chr3:28186446-28186447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201216044	chr3:28186450-28186451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142841544	chr3:28186458-28186459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563324322	chr3:28186459-28186460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369102945	chr3:28186460-28186461	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: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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