Variant report

Variant	nsv876627
Chromosome Location	chr3:24744504-24824302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24797378..24798887-chr3:24799075..24801022,2	K562	blood:
2	chr3:24802431..24804243-chr3:24805497..24807982,2	K562	blood:
3	chr3:24802431..24804243-chr3:24805497..24807982,2	K562	blood:
4	chr3:24745399..24747659-chr3:24751181..24753513,2	K562	blood:
5	chr3:24745399..24747659-chr3:24751181..24753513,2	K562	blood:
6	chr3:24766490..24768818-chr3:24773482..24775957,2	K562	blood:
7	chr3:24814926..24815573-chr3:25074600..25075173,3	MCF-7	breast:
8	chr3:24755192..24756974-chr3:24759928..24761810,2	K562	blood:
9	chr3:24814934..24815742-chr3:25136008..25136648,2	MCF-7	breast:
10	chr3:24755192..24756974-chr3:24759928..24761810,2	K562	blood:
11	chr3:24815278..24815959-chr3:25635331..25636072,2	MCF-7	breast:
12	chr3:24751127..24751647-chr3:149088018..149088599,2	Hela-S3	cervix:
13	chr3:24727648..24729843-chr3:24805310..24807941,2	K562	blood:
14	chr3:24815127..24815890-chr3:25004964..25005522,2	MCF-7	breast:
15	chr3:24797378..24798887-chr3:24799075..24801022,2	K562	blood:
16	chr3:24766490..24768818-chr3:24773482..24775957,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RARB-1	chr3:24803731-24803785	ENSG00000237838

No data

Variant related genes	Relation type
ENSG00000237838	chromatin interactions

Extended variants
information (count: 1769 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1769 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568036694	chr3:24744654-24744655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528217977	chr3:24744697-24744698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546746019	chr3:24744698-24744699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568132923	chr3:24744703-24744704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528923314	chr3:24744707-24744708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550503121	chr3:24744724-24744725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75831272	chr3:24744773-24744774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76644221	chr3:24744774-24744775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141612521	chr3:24744776-24744777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375407912	chr3:24744792-24744793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35825515	chr3:24744801-24744802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537313015	chr3:24744802-24744803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558748088	chr3:24744843-24744844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527299852	chr3:24744854-24744855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375050798	chr3:24744896-24744897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150542652	chr3:24744899-24744900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534870397	chr3:24744905-24744906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193055286	chr3:24744928-24744929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369509443	chr3:24744939-24744940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11919376	chr3:24744947-24744948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111682040	chr3:24744949-24744950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557284604	chr3:24744955-24744956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116429779	chr3:24744989-24744990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114837667	chr3:24745025-24745026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199552460	chr3:24745034-24745035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560506955	chr3:24745040-24745041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75389320	chr3:24745041-24745042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549667993	chr3:24745070-24745071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114356739	chr3:24745106-24745107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561630929	chr3:24745138-24745139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184778334	chr3:24745197-24745198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115802496	chr3:24745208-24745209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187938005	chr3:24745272-24745273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532742900	chr3:24745291-24745292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146239952	chr3:24745297-24745298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570799145	chr3:24745303-24745304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34790279	chr3:24745342-24745343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555454241	chr3:24745346-24745347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575884179	chr3:24745358-24745359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78523115	chr3:24745363-24745364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113791073	chr3:24745373-24745374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568473501	chr3:24745386-24745387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535913118	chr3:24745459-24745460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564780986	chr3:24745496-24745497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368916693	chr3:24745521-24745522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575738327	chr3:24745548-24745549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373511984	chr3:24745600-24745601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142665904	chr3:24745631-24745632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546023683	chr3:24745657-24745658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144099633	chr3:24745674-24745675	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
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
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24744600-24745800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr3:24745000-24746000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:24745000-24746800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr3:24745000-24747000	Enhancers	HMEC	breast
5	chr3:24745200-24746800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:24745200-24747000	Enhancers	NHEK	skin
7	chr3:24745600-24745800	Enhancers	Aorta	Aorta
8	chr3:24745600-24747000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:24745600-24747000	Enhancers	A549	lung
10	chr3:24745600-24747000	Enhancers	Hela-S3	cervix
11	chr3:24745600-24747200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:24745800-24746800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:24745800-24747000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:24745800-24754400	Weak transcription	Aorta	Aorta
15	chr3:24746000-24746400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:24746000-24746800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:24746400-24747000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:24746400-24747000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:24746400-24749600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:24747600-24747800	Enhancers	Gastric	stomach
21	chr3:24749600-24754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:24751200-24752200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:24754200-24756000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr3:24754400-24755600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:24754400-24756400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:24754400-24756400	Enhancers	Aorta	Aorta
27	chr3:24754800-24755800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr3:24755000-24755400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:24755000-24755600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:24755000-24755800	Enhancers	Fetal Lung	lung
31	chr3:24755200-24755400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:24763600-24763800	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr3:24763600-24764200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:24763800-24764000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr3:24764000-24765000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr3:24764200-24767000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:24764400-24764600	Enhancers	Psoas Muscle	Psoas
38	chr3:24764600-24767400	Weak transcription	Psoas Muscle	Psoas
39	chr3:24766400-24767200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:24766400-24768000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:24766400-24768000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:24766400-24768200	Enhancers	NHEK	skin
43	chr3:24766600-24768200	Enhancers	HMEC	breast
44	chr3:24767000-24767400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:24767200-24767600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:24767200-24768200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr3:24767600-24768200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:24768000-24768400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:24768000-24775200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:24768200-24771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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