Variant report

Variant	nsv969963
Chromosome Location	chr5:70791368-70803188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:70794892..70797497-chr5:70800598..70802623,2	K562	blood:
2	chr5:70799887..70801582-chr5:70804594..70806211,2	K562	blood:
3	chr5:70794892..70797497-chr5:70800598..70802623,2	K562	blood:

Extended variants
information (count: 451 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569009916	chr5:70791381-70791382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146216834	chr5:70791385-70791386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554936808	chr5:70791472-70791473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574060775	chr5:70791491-70791492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541483571	chr5:70791529-70791530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553180934	chr5:70791555-70791556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553254857	chr5:70791606-70791607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192833145	chr5:70791627-70791628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183756843	chr5:70791670-70791671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116446323	chr5:70791764-70791765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369915858	chr5:70791787-70791788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575501532	chr5:70791791-70791792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542901093	chr5:70791802-70791803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368155754	chr5:70791835-70791836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528075338	chr5:70791840-70791841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546616677	chr5:70791844-70791845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571138618	chr5:70791912-70791913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577955477	chr5:70791924-70791925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532237731	chr5:70791939-70791940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538653690	chr5:70791955-70791956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550473938	chr5:70791985-70791986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569017515	chr5:70791986-70791987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552869221	chr5:70792002-70792003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536478429	chr5:70792008-70792009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372024194	chr5:70792028-70792029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368503653	chr5:70792037-70792038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548499977	chr5:70792047-70792048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34456179	chr5:70792068-70792069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566811875	chr5:70792069-70792070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534974810	chr5:70792135-70792136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553333246	chr5:70792176-70792177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16876019	chr5:70792199-70792200	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs199764848	chr5:70792200-70792201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374412347	chr5:70792207-70792208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187796571	chr5:70792244-70792245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11410823	chr5:70792265-70792266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10682137	chr5:70792282-70792283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575412774	chr5:70792431-70792432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191815823	chr5:70792433-70792434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561238046	chr5:70792434-70792435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573210834	chr5:70792472-70792473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539798404	chr5:70792487-70792488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564917209	chr5:70792488-70792489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4704049	chr5:70792541-70792542	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs575275265	chr5:70792556-70792557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183751002	chr5:70792561-70792562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529904417	chr5:70792566-70792567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144678557	chr5:70792583-70792584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188470446	chr5:70792599-70792600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534114322	chr5:70792602-70792603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70752600-70794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:70754200-70815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:70754400-70795800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:70754400-70807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:70754400-70809800	Strong transcription	Fetal Intestine Large	intestine
6	chr5:70754400-70824200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:70754600-70820400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:70754600-70820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:70759800-70833400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:70760200-70798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:70765400-70820400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:70765400-70820400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr5:70766000-70820400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:70766200-70807000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr5:70771000-70794600	Weak transcription	Colonic Mucosa	Colon
16	chr5:70771200-70792200	Weak transcription	Spleen	Spleen
17	chr5:70771400-70820400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:70771800-70799200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:70774000-70793600	Weak transcription	Lung	lung
20	chr5:70774400-70820400	Strong transcription	Fetal Thymus	thymus
21	chr5:70775600-70821000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:70776000-70806200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:70776400-70819200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:70776400-70820400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:70776400-70820400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr5:70776400-70820400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:70776600-70820400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:70776800-70795400	Strong transcription	GM12878-XiMat	blood
29	chr5:70776800-70820400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:70776800-70820400	Strong transcription	Dnd41	blood
31	chr5:70777600-70837600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:70777800-70816400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:70778200-70793600	Weak transcription	Right Ventricle	heart
34	chr5:70778200-70807000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr5:70778400-70810000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:70778400-70816400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
38	chr5:70779000-70796000	Strong transcription	Placenta	Placenta
39	chr5:70779000-70807000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:70779000-70820400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:70779000-70820600	Strong transcription	Liver	Liver
42	chr5:70779200-70812400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:70779200-70820600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:70779400-70794200	Strong transcription	Adipose Nuclei	Adipose
45	chr5:70779400-70820400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:70779600-70802400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:70779800-70809000	Strong transcription	Primary T cells from cord blood	blood
48	chr5:70780000-70820400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:70780200-70793600	Strong transcription	NH-A	brain
50	chr5:70780200-70794200	Strong transcription	Osteobl	bone

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