Variant report

Variant	nsv1002564
Chromosome Location	chr1:193208937-193240380
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:20)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193212028..193214033-chr1:193218505..193221005,2	K562	blood:
2	chr1:193089894..193091755-chr1:193212325..193214360,2	K562	blood:
3	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:
4	chr1:193214812..193216913-chr1:193219574..193221707,2	K562	blood:
5	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:
6	chr1:193216941..193221237-chr1:193223372..193228455,4	K562	blood:
7	chr1:193233104..193235296-chr1:193237238..193240130,3	K562	blood:
8	chr1:193214812..193216913-chr1:193219574..193221707,2	K562	blood:
9	chr1:193212028..193214033-chr1:193218505..193221005,2	K562	blood:
10	chr1:193224553..193225319-chr1:193307364..193308130,2	MCF-7	breast:
11	chr1:193217879..193219422-chr1:193221732..193224012,2	K562	blood:
12	chr1:193217879..193219422-chr1:193221732..193224012,2	K562	blood:
13	chr1:193026590..193028368-chr1:193225578..193228087,2	K562	blood:
14	chr1:193133772..193136004-chr1:193215250..193217762,2	K562	blood:
15	chr1:193216941..193221237-chr1:193223372..193228455,4	K562	blood:
16	chr1:193233104..193235296-chr1:193237238..193240130,3	K562	blood:
17	chr1:193230026..193232497-chr1:193244244..193247099,2	K562	blood:
18	chr1:193073776..193076125-chr1:193211684..193213561,2	MCF-7	breast:
19	chr1:193206125..193208911-chr1:193221545..193223577,2	K562	blood:
20	chr1:193074302..193075986-chr1:193233288..193236192,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-5	chr1:193228276-193229098	NONHSAT008565
2	lnc-CDC73-5	chr1:193227162-193227386	NONHSAT008565
3	lnc-CDC73-5	chr1:193230821-193231356	NONHSAT008565
4	lnc-CDC73-5	chr1:193230781-193230799	NONHSAT008565
5	lnc-CDC73-5	chr1:193224754-193225611	NONHSAT008565
6	lnc-CDC73-5	chr1:193227477-193228190	NONHSAT008565
7	lnc-CDC73-5	chr1:193231457-193233744	NONHSAT008565
8	lnc-CDC73-5	chr1:193229687-193230635	NONHSAT008565

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDC73	hsa-miR-155-5p	chr1:193220093-193220099
2	CDC73	hsa-miR-155-5p	chr1:193220078-193220100

Variant related genes	Relation type
ENSG00000023572	chromatin interactions
ENSG00000116750	chromatin interactions
ENSG00000134371	chromatin interactions

Extended variants
information (count: 1115 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1115 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182311950	chr1:193208997-193208998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs568981817	chr1:193209006-193209007	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559080655	chr1:193209039-193209040	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12411221	chr1:193209091-193209092	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544915727	chr1:193209118-193209119	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7556154	chr1:193209175-193209176	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530549432	chr1:193209208-193209209	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370321021	chr1:193209212-193209213	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550523946	chr1:193209221-193209222	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7556241	chr1:193209267-193209268	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534126758	chr1:193209278-193209279	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145712471	chr1:193209282-193209283	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549705123	chr1:193209305-193209306	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560194365	chr1:193209306-193209307	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186964596	chr1:193209325-193209326	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147432971	chr1:193209364-193209365	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190754280	chr1:193209377-193209378	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139613809	chr1:193209383-193209384	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182622717	chr1:193209426-193209427	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573706446	chr1:193209457-193209458	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527388421	chr1:193209462-193209463	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148945481	chr1:193209518-193209519	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562010930	chr1:193209530-193209531	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573088099	chr1:193209543-193209544	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545164605	chr1:193209583-193209584	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147158001	chr1:193209595-193209596	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148647640	chr1:193209596-193209597	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142050739	chr1:193209604-193209605	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185764641	chr1:193209616-193209617	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529713341	chr1:193209634-193209635	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375940688	chr1:193209642-193209643	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4379660	chr1:193209654-193209655	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151155826	chr1:193209672-193209673	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189738332	chr1:193209703-193209704	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139406061	chr1:193209757-193209758	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571764864	chr1:193209783-193209784	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182888072	chr1:193209823-193209824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556997274	chr1:193209834-193209835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550663480	chr1:193209941-193209942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567461791	chr1:193209959-193209960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536229220	chr1:193209964-193209965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552976214	chr1:193209996-193209997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566729718	chr1:193210020-193210021	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575351837	chr1:193210150-193210151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558676168	chr1:193210174-193210175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539617605	chr1:193210213-193210214	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75930708	chr1:193210220-193210221	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187738422	chr1:193210243-193210244	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557960203	chr1:193210263-193210264	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs193249463	chr1:193210270-193210271	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
10	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
12	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:193183400-193216000	Weak transcription	NHEK	skin
14	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:193184400-193227600	Weak transcription	HMEC	breast
16	chr1:193185400-193211000	Weak transcription	Fetal Brain Female	brain
17	chr1:193185400-193218200	Weak transcription	HepG2	liver
18	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
19	chr1:193186600-193210600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:193186800-193210400	Weak transcription	Lung	lung
22	chr1:193187000-193210400	Weak transcription	Gastric	stomach
23	chr1:193187000-193210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:193187000-193212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:193187000-193213000	Weak transcription	Spleen	Spleen
26	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
27	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
28	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:193191400-193217000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
31	chr1:193191600-193216200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:193191600-193216600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:193191600-193216800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:193192200-193216000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:193192200-193216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:193195600-193216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:193198600-193217000	Weak transcription	A549	lung
38	chr1:193198800-193216000	Weak transcription	GM12878-XiMat	blood
39	chr1:193198800-193216600	Weak transcription	Psoas Muscle	Psoas
40	chr1:193198800-193216600	Weak transcription	NHLF	lung
41	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:193201800-193209200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
44	chr1:193202200-193211400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:193202400-193216800	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:193203400-193209200	Weak transcription	Fetal Brain Male	brain
47	chr1:193203800-193216000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:193204400-193209600	Strong transcription	Liver	Liver
49	chr1:193204400-193209800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:193204600-193209800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links