Variant report

Variant	nsv508222
Chromosome Location	chr3:67604888-67613173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:67603334..67606300-chr3:67607954..67610100,2	K562	blood:
2	chr3:67603334..67606300-chr3:67607954..67610100,2	K562	blood:

Extended variants
information (count: 328 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72927355	chr3:67604911-67604912	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547424179	chr3:67604976-67604977	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570502986	chr3:67605009-67605010	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554110817	chr3:67605126-67605127	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532350147	chr3:67605142-67605143	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552448930	chr3:67605161-67605162	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145649569	chr3:67605185-67605186	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538058947	chr3:67605197-67605198	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554438953	chr3:67605206-67605207	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191562941	chr3:67605223-67605224	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533853897	chr3:67605229-67605230	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549369373	chr3:67605258-67605259	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553844098	chr3:67605327-67605328	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116116770	chr3:67605354-67605355	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545435014	chr3:67605374-67605375	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182494935	chr3:67605425-67605426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556823945	chr3:67605475-67605476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185262785	chr3:67605500-67605501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544701474	chr3:67605517-67605518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13100681	chr3:67605532-67605533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561930042	chr3:67605557-67605558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527821861	chr3:67605582-67605583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147731140	chr3:67605589-67605590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190866384	chr3:67605610-67605611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1888089	chr3:67605629-67605630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115528587	chr3:67605645-67605646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562821826	chr3:67605646-67605647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115776604	chr3:67605671-67605672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548436383	chr3:67605725-67605726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549143779	chr3:67605736-67605737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568249262	chr3:67605769-67605770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533922176	chr3:67605835-67605836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547516779	chr3:67605836-67605837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79401717	chr3:67605847-67605848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142513182	chr3:67605872-67605873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565710585	chr3:67605886-67605887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76456632	chr3:67605912-67605913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576709223	chr3:67605933-67605934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79998954	chr3:67605962-67605963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144929378	chr3:67605969-67605970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183282884	chr3:67605975-67605976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541189746	chr3:67605986-67605987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112067064	chr3:67606040-67606041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562257283	chr3:67606098-67606099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564258326	chr3:67606107-67606108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578011604	chr3:67606133-67606134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543824739	chr3:67606182-67606183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187203487	chr3:67606198-67606199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531670262	chr3:67606320-67606321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548500185	chr3:67606326-67606327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67560600-67620800	Weak transcription	Esophagus	oesophagus
2	chr3:67578200-67612400	Weak transcription	Spleen	Spleen
3	chr3:67578200-67634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:67579200-67608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:67579200-67620600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:67579400-67623000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:67579400-67633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
9	chr3:67580000-67606400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:67580800-67620200	Weak transcription	GM12878-XiMat	blood
11	chr3:67582200-67637000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:67582400-67609000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:67582400-67620400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:67582600-67612000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:67587000-67620200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:67587400-67628000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:67589800-67615000	Weak transcription	HSMMtube	muscle
18	chr3:67591400-67620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:67591600-67606200	Weak transcription	Liver	Liver
20	chr3:67591600-67611200	Weak transcription	HepG2	liver
21	chr3:67594000-67612400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:67594000-67620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:67594000-67631000	Weak transcription	K562	blood
24	chr3:67594400-67610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:67594800-67605200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:67594800-67606200	Weak transcription	Osteobl	bone
27	chr3:67595000-67639400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:67596200-67608200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:67596200-67608800	Weak transcription	Small Intestine	intestine
30	chr3:67596400-67629000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:67598000-67644200	Weak transcription	NHLF	lung
32	chr3:67598200-67618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:67598800-67616400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:67599600-67620800	Weak transcription	Dnd41	blood
35	chr3:67599600-67621000	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:67599600-67629000	Weak transcription	Right Ventricle	heart
37	chr3:67600000-67608200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:67600200-67628800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:67600400-67620600	Weak transcription	HMEC	breast
40	chr3:67600400-67624400	Weak transcription	Adipose Nuclei	Adipose
41	chr3:67600600-67611600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:67600800-67621000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr3:67601000-67609800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr3:67601400-67606200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr3:67601600-67610000	Strong transcription	Primary T cells from cord blood	blood
46	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
47	chr3:67602200-67608000	Weak transcription	Fetal Intestine Large	intestine
48	chr3:67602200-67619800	Weak transcription	Fetal Intestine Small	intestine
49	chr3:67602200-67620800	Weak transcription	Fetal Stomach	stomach
50	chr3:67602200-67644200	Weak transcription	Gastric	stomach

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