Variant report

Variant	nsv872696
Chromosome Location	chr1:189321018-189620278
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:43)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
2	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
3	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
4	chr1:189121464..189123287-chr1:189388904..189390413,2	K562	blood:
5	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
6	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
7	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
8	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
9	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
10	chr1:189617058..189619904-chr1:189621793..189623517,2	MCF-7	breast:
11	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
12	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
13	chr1:188762438..188765055-chr1:189455240..189458166,2	MCF-7	breast:
14	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
15	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
16	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
17	chr1:189398245..189398855-chr3:191237330..191238213,2	MCF-7	breast:
18	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
19	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
20	chr1:189493316..189495330-chr8:119780090..119782266,2	MCF-7	breast:
21	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
22	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
23	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
24	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
25	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
26	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
27	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
28	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
29	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
30	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
31	chr1:189119463..189122039-chr1:189394507..189396400,2	K562	blood:
32	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
33	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
34	chr1:188746632..188749210-chr1:189368064..189370522,2	K562	blood:
35	chr1:189389640..189390412-chr9:79530846..79531642,2	MCF-7	breast:
36	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
37	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
38	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
39	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
40	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
41	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
42	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
43	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-18	chr1:189464076-189464220	NONHSAT008485
2	lnc-PLA2G4A-18	chr1:189456912-189457065	NONHSAT008485

No data

Extended variants
information (count: 2507 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2507 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12746652	chr1:189321018-189321019	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370021735	chr1:189321029-189321030	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546692378	chr1:189321033-189321034	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566938922	chr1:189321079-189321080	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1336890	chr1:189321098-189321099	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs559290664	chr1:189321108-189321109	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115250009	chr1:189321130-189321131	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs115597510	chr1:189321147-189321148	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs554638646	chr1:189321171-189321172	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550865265	chr1:189321219-189321220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574791929	chr1:189321226-189321227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376682619	chr1:189321238-189321239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540354382	chr1:189321306-189321307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74440324	chr1:189321308-189321309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572695276	chr1:189321330-189321331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546357543	chr1:189321384-189321385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142570876	chr1:189321400-189321401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1336889	chr1:189321409-189321410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs564743600	chr1:189321416-189321417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575151560	chr1:189321429-189321430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78385776	chr1:189321521-189321522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112673092	chr1:189321525-189321526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114660875	chr1:189321617-189321618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533394282	chr1:189321619-189321620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551840191	chr1:189321675-189321676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546358439	chr1:189321779-189321780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560337484	chr1:189321784-189321785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532743677	chr1:189321786-189321787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552764372	chr1:189321789-189321790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555098445	chr1:189321813-189321814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150950138	chr1:189321827-189321828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186470300	chr1:189321877-189321878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199528126	chr1:189321941-189321942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568340175	chr1:189321954-189321955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534242499	chr1:189321992-189321993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373411593	chr1:189322029-189322030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116407547	chr1:189322052-189322053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576882256	chr1:189322111-189322112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115838495	chr1:189322154-189322155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528937865	chr1:189322194-189322195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77743765	chr1:189322228-189322229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2065895	chr1:189322249-189322250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544165277	chr1:189322253-189322254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561265857	chr1:189322271-189322272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74845835	chr1:189322281-189322282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540264739	chr1:189322287-189322288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560199687	chr1:189322309-189322310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190190189	chr1:189322319-189322320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552315554	chr1:189322350-189322351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182762681	chr1:189322363-189322364	Weak transcription	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189319200-189325200	Weak transcription	Stomach Mucosa	stomach
2	chr1:189320800-189321200	Flanking Active TSS	A549	lung
3	chr1:189321200-189321600	Enhancers	A549	lung
4	chr1:189325000-189325200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:189325200-189325600	Enhancers	Stomach Mucosa	stomach
6	chr1:189325200-189326600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:189325600-189326600	Weak transcription	Stomach Mucosa	stomach
8	chr1:189326600-189327000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:189326600-189327000	Enhancers	Stomach Mucosa	stomach
10	chr1:189343800-189344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:189344000-189344600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:189370200-189370400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:189370400-189370800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:189372200-189373000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:189373000-189373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:189373200-189373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:189373400-189374400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:189374200-189374400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr1:189374200-189374400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:189374200-189375200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:189374400-189374600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:189374400-189374600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:189374400-189375600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:189374400-189375800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:189374600-189374800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:189374600-189374800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:189374600-189374800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:189374600-189375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:189374800-189375000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:189374800-189375400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:189374800-189375400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:189378800-189379600	Enhancers	A549	lung
33	chr1:189464600-189466600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:189465200-189466400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:189466400-189469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:189466600-189469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:189469400-189470400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:189469600-189470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:189474400-189474800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:189481800-189482000	Enhancers	HepG2	liver
41	chr1:189482000-189482400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:189482000-189482400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:189482000-189482600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:189482000-189482800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:189482000-189482800	ZNF genes & repeats	Lung	lung
46	chr1:189482000-189482800	Flanking Active TSS	HepG2	liver
47	chr1:189482200-189482400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:189482200-189482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:189482800-189483200	Enhancers	HepG2	liver
50	chr1:189495200-189495600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links