Variant report

Variant	nsv519524
Chromosome Location	chr3:24294381-24299505
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24298149..24300449-chr3:24302708..24304769,2	K562	blood:
2	chr3:24292380..24293972-chr3:24295078..24296685,2	K562	blood:
3	chr3:23958551..23960055-chr3:24295858..24297898,2	K562	blood:
4	chr3:24296130..24297967-chr3:24299752..24301340,2	MCF-7	breast:
5	chr3:24253238..24254897-chr3:24293051..24294557,2	K562	blood:
6	chr3:24295617..24298486-chr3:24535596..24538208,2	MCF-7	breast:
7	chr3:24298797..24301703-chr3:24554490..24556064,2	K562	blood:
8	chr3:24284818..24287512-chr3:24293603..24295471,2	MCF-7	breast:
9	chr3:24060176..24062310-chr3:24299277..24301761,2	K562	blood:
10	chr3:24297598..24300449-chr3:24300690..24305218,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197885	chromatin interactions
ENSG00000228791	chromatin interactions
ENSG00000151090	chromatin interactions
ENSG00000174748	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:209 , 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	rs1505301	chr3:24294381-24294382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114191839	chr3:24294382-24294383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187423971	chr3:24294402-24294403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190624210	chr3:24294454-24294455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529274209	chr3:24294519-24294520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544657995	chr3:24294520-24294521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540914056	chr3:24294553-24294554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116561082	chr3:24294576-24294577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145059716	chr3:24294586-24294587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549573976	chr3:24294614-24294615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542687372	chr3:24294647-24294648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541665841	chr3:24294648-24294649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563357423	chr3:24294650-24294651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs826228	chr3:24294695-24294696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138861873	chr3:24294703-24294704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563941935	chr3:24294740-24294741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147301432	chr3:24294779-24294780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529985349	chr3:24294806-24294807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142195366	chr3:24294814-24294815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566415834	chr3:24294838-24294839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs826227	chr3:24294854-24294855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144775247	chr3:24294872-24294873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548498717	chr3:24294889-24294890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570105547	chr3:24294906-24294907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148176635	chr3:24294909-24294910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559041469	chr3:24294913-24294914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs826226	chr3:24294924-24294925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1505300	chr3:24294978-24294979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183182849	chr3:24294981-24294982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574404084	chr3:24295033-24295034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541578375	chr3:24295062-24295063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369724243	chr3:24295084-24295085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7649876	chr3:24295105-24295106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142018176	chr3:24295106-24295107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188162566	chr3:24295107-24295108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150686243	chr3:24295119-24295120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557510788	chr3:24295137-24295138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4858598	chr3:24295187-24295188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540241737	chr3:24295237-24295238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192683564	chr3:24295239-24295240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7627249	chr3:24295240-24295241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116755574	chr3:24295244-24295245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76839948	chr3:24295291-24295292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74487957	chr3:24295335-24295336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182608851	chr3:24295350-24295351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570653766	chr3:24295368-24295369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371834321	chr3:24295378-24295379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139463034	chr3:24295394-24295395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552953693	chr3:24295414-24295415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57339926	chr3:24295419-24295420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24272400-24301400	Weak transcription	Fetal Intestine Large	intestine
2	chr3:24283600-24297000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:24284200-24300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:24284400-24295200	Weak transcription	Fetal Stomach	stomach
5	chr3:24284600-24295200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:24284600-24300400	Weak transcription	Pancreas	Pancrea
7	chr3:24285000-24296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:24285200-24299600	Weak transcription	Left Ventricle	heart
9	chr3:24285400-24294800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:24286800-24294800	Weak transcription	Aorta	Aorta
11	chr3:24286800-24299200	Weak transcription	Adipose Nuclei	Adipose
12	chr3:24291600-24294800	Weak transcription	Fetal Intestine Small	intestine
13	chr3:24293600-24295000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr3:24294200-24295000	Weak transcription	Psoas Muscle	Psoas
15	chr3:24294800-24295000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:24294800-24295200	Enhancers	Aorta	Aorta
17	chr3:24294800-24295200	Enhancers	Fetal Intestine Small	intestine
18	chr3:24294800-24295200	Enhancers	Right Ventricle	heart
19	chr3:24294800-24295200	Enhancers	NHDF-Ad	bronchial
20	chr3:24294800-24295400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:24294800-24295400	Enhancers	HepG2	liver
22	chr3:24294800-24295400	Enhancers	HMEC	breast
23	chr3:24294800-24296600	Enhancers	Colon Smooth Muscle	Colon
24	chr3:24294800-24297800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:24295000-24295200	Enhancers	Psoas Muscle	Psoas
26	chr3:24295000-24296000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:24295000-24296400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:24295200-24295400	Enhancers	Fetal Stomach	stomach
29	chr3:24295200-24295400	Enhancers	Rectal Smooth Muscle	rectum
30	chr3:24295200-24295600	Weak transcription	NHDF-Ad	bronchial
31	chr3:24295200-24297000	Weak transcription	Psoas Muscle	Psoas
32	chr3:24295200-24298000	Weak transcription	Right Ventricle	heart
33	chr3:24295200-24299600	Weak transcription	Aorta	Aorta
34	chr3:24295200-24299600	Weak transcription	Fetal Intestine Small	intestine
35	chr3:24295400-24295800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:24295400-24295800	Weak transcription	HMEC	breast
37	chr3:24295400-24297000	Weak transcription	Fetal Stomach	stomach
38	chr3:24295400-24300000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:24295400-24306400	Weak transcription	HepG2	liver
40	chr3:24295600-24295800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:24295600-24297200	Enhancers	NHDF-Ad	bronchial
42	chr3:24295800-24296200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:24295800-24296600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:24295800-24296600	Enhancers	Rectal Smooth Muscle	rectum
45	chr3:24295800-24296800	Enhancers	HSMM	muscle
46	chr3:24295800-24296800	Enhancers	Osteobl	bone
47	chr3:24295800-24297000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:24295800-24297000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:24295800-24297200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:24295800-24297200	Enhancers	HMEC	breast

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