Variant report

Variant	nsv1007444
Chromosome Location	chr1:193207512-193237789
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:21)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:21 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-5	chr1:193227162-193227386	NONHSAT008565
2	lnc-CDC73-5	chr1:193227477-193228190	NONHSAT008565
3	lnc-CDC73-5	chr1:193230781-193230799	NONHSAT008565
4	lnc-CDC73-5	chr1:193224754-193225611	NONHSAT008565
5	lnc-CDC73-5	chr1:193228276-193229098	NONHSAT008565
6	lnc-CDC73-5	chr1:193231457-193233744	NONHSAT008565
7	lnc-CDC73-5	chr1:193229687-193230635	NONHSAT008565
8	lnc-CDC73-5	chr1:193230821-193231356	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	chr1:193220078-193220100
2	CDC73	hsa-miR-155-5p	chr1:193220093-193220099

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

Extended variants
information (count: 1089 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1089 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564529639	chr1:193207514-193207515	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184771177	chr1:193207520-193207521	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75395203	chr1:193207554-193207555	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374233720	chr1:193207575-193207576	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189142806	chr1:193207576-193207577	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116184515	chr1:193207579-193207580	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138653253	chr1:193207594-193207595	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192823091	chr1:193207631-193207632	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565419938	chr1:193207643-193207644	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552329412	chr1:193207684-193207685	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138446663	chr1:193207698-193207699	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74130939	chr1:193207742-193207743	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6428157	chr1:193207746-193207747	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539698711	chr1:193207751-193207752	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185249888	chr1:193207776-193207777	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566643770	chr1:193207836-193207837	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141355340	chr1:193207892-193207893	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536043611	chr1:193207893-193207894	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113177006	chr1:193207905-193207906	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542347458	chr1:193207911-193207912	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570543299	chr1:193207960-193207961	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556026620	chr1:193207978-193207979	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557266029	chr1:193207985-193207986	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145039465	chr1:193208039-193208040	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557829866	chr1:193208076-193208077	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577970587	chr1:193208085-193208086	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543496495	chr1:193208127-193208128	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190179111	chr1:193208240-193208241	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181105342	chr1:193208262-193208263	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200056511	chr1:193208274-193208275	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529183395	chr1:193208277-193208278	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569492209	chr1:193208310-193208311	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575384380	chr1:193208316-193208317	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542389869	chr1:193208326-193208327	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184107620	chr1:193208343-193208344	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564408491	chr1:193208344-193208345	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528140908	chr1:193208386-193208387	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17593414	chr1:193208397-193208398	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574791162	chr1:193208405-193208406	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188005380	chr1:193208457-193208458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138876876	chr1:193208484-193208485	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs180917215	chr1:193208519-193208520	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539827880	chr1:193208597-193208598	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76227976	chr1:193208611-193208612	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs74662246	chr1:193208612-193208613	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369093172	chr1:193208627-193208628	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543652269	chr1:193208628-193208629	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536180318	chr1:193208631-193208632	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs373766618	chr1:193208644-193208645	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561759025	chr1:193208649-193208650	Weak transcription Strong transcription 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:788 , 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	chr1:193201400-193207600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:193201400-193208200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:193201600-193208200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:193201600-193208400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:193201600-193208400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:193201600-193208600	Strong transcription	Fetal Thymus	thymus
48	chr1:193201800-193209200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
50	chr1:193202200-193207600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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