Variant report

Variant	nsv430013
Chromosome Location	chr1:190288297-190351677
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
2	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
3	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
4	chr1:190317641..190318618-chr20:52402718..52403693,2	MCF-7	breast:
5	chr1:190292061..190292926-chr8:96880412..96881301,2	MCF-7	breast:
6	chr1:190342576..190343250-chr1:190405276..190406393,5	MCF-7	breast:
7	chr1:190350737..190353263-chr1:190362738..190364673,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-6	chr1:190311559-190311662	ENSG00000225811.1
2	lnc-RGS18-6	chr1:190331193-190331400	ENSG00000225811.1
3	lnc-RGS18-6	chr1:190311827-190311885	ENSG00000225811.1

No data

Extended variants
information (count: 824 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs652953	chr1:190288297-190288298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370280812	chr1:190288322-190288323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138865967	chr1:190288337-190288338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142606712	chr1:190288353-190288354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557340094	chr1:190288387-190288388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192806025	chr1:190288404-190288405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543275491	chr1:190288406-190288407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs642040	chr1:190288439-190288440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528640038	chr1:190288450-190288451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545478709	chr1:190288462-190288463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562961355	chr1:190288510-190288511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184310729	chr1:190288567-190288568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537324250	chr1:190288574-190288575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565685147	chr1:190294403-190294404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542792813	chr1:190294498-190294499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534355259	chr1:190294508-190294509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10920695	chr1:190294544-190294545	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs578220006	chr1:190294600-190294601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537737696	chr1:190294617-190294618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557595614	chr1:190294620-190294621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574258804	chr1:190294621-190294622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181987729	chr1:190294631-190294632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559923976	chr1:190294633-190294634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573268936	chr1:190294646-190294647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545119112	chr1:190294665-190294666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140475242	chr1:190294678-190294679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs815163	chr1:190294726-190294727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12047392	chr1:190294742-190294743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563164118	chr1:190294745-190294746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575263514	chr1:190294751-190294752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548750701	chr1:190294755-190294756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565666107	chr1:190294814-190294815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12096195	chr1:190294815-190294816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551128639	chr1:190294848-190294849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145727806	chr1:190294897-190294898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537742074	chr1:190294899-190294900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188131437	chr1:190294904-190294905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372617267	chr1:190294905-190294906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74129283	chr1:190294926-190294927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536877936	chr1:190294953-190294954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561474944	chr1:190294980-190294981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146575894	chr1:190295014-190295015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573296701	chr1:190295072-190295073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181285518	chr1:190295111-190295112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540896595	chr1:190295121-190295122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185878849	chr1:190295172-190295173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565139513	chr1:190295198-190295199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191143942	chr1:190295212-190295213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543327705	chr1:190295223-190295224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555702687	chr1:190295237-190295238	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190288000-190288600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:190294400-190296000	Enhancers	Fetal Heart	heart
3	chr1:190296800-190297200	Active TSS	Fetal Lung	lung
4	chr1:190296800-190298400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:190305000-190305200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:190317200-190317600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:190319000-190319400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:190322800-190323200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:190335200-190337400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:190335800-190337200	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr1:190336000-190336600	ZNF genes & repeats	Fetal Intestine Large	intestine
12	chr1:190336000-190337800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:190336600-190338000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:190337200-190337600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:190337600-190338200	Enhancers	Fetal Intestine Small	intestine
16	chr1:190337800-190338000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:190338000-190339800	Active TSS	Fetal Intestine Large	intestine
18	chr1:190338000-190350000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:190346200-190347400	Weak transcription	Fetal Intestine Large	intestine
20	chr1:190347400-190347600	Enhancers	Fetal Intestine Large	intestine
21	chr1:190347600-190350000	Weak transcription	Fetal Intestine Large	intestine
22	chr1:190349400-190349800	Enhancers	Brain Angular Gyrus	brain
23	chr1:190350000-190350200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:190350000-190350400	Active TSS	Brain Angular Gyrus	brain
25	chr1:190350000-190350400	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:190350000-190350400	Enhancers	Fetal Heart	heart
27	chr1:190350000-190350600	Enhancers	Fetal Intestine Large	intestine
28	chr1:190350000-190350600	Active TSS	A549	lung
29	chr1:190350200-190350400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:190350200-190350400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr1:190350200-190350400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:190350200-190350600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:190350200-190350600	Active TSS	Brain Germinal Matrix	brain
34	chr1:190350200-190351200	Active TSS	Brain Anterior Caudate	brain
35	chr1:190350400-190352600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:190350600-190351200	Weak transcription	Brain Germinal Matrix	brain
37	chr1:190350600-190352800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:190351200-190352400	Enhancers	Brain Germinal Matrix	brain

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