Variant report

Variant	esv3407140
Chromosome Location	chr1:190450354-190452902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:190452132-190452232	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-5	chr1:190449475-190450669	XLOC_000505
2	lnc-RGS18-5	chr1:190449475-190450667	XLOC_000505
3	lnc-RGS18-5	chr1:190449475-190450523	XLOC_000505
4	lnc-RGS18-5	chr1:190449475-190450669	XLOC_000505

Variant related genes	Relation type
BRINP3	TF binding region

Extended variants
information (count: 153 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552047358	chr1:190450412-190450413	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189886674	chr1:190450413-190450414	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs181093165	chr1:190450419-190450420	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs531383518	chr1:190450448-190450449	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs75451406	chr1:190450494-190450495	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs568165295	chr1:190450507-190450508	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs184135994	chr1:190450514-190450515	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs547373349	chr1:190450566-190450567	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs570312023	chr1:190450574-190450575	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs540176433	chr1:190450609-190450610	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs556891771	chr1:190450627-190450628	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557160247	chr1:190450641-190450642	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs576624564	chr1:190450818-190450819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570289670	chr1:190450828-190450829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536039651	chr1:190450863-190450864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555645780	chr1:190450868-190450869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576996195	chr1:190450921-190450922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189201775	chr1:190450943-190450944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541117677	chr1:190450958-190450959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181529636	chr1:190450970-190450971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150619402	chr1:190450976-190450977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80145839	chr1:190451041-190451042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541426796	chr1:190451043-190451044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563254270	chr1:190451044-190451045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187562303	chr1:190451045-190451046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531469077	chr1:190451086-190451087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541645752	chr1:190451098-190451099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75587637	chr1:190451161-190451162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527392085	chr1:190451189-190451190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547166054	chr1:190451319-190451320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530414420	chr1:190451374-190451375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532933841	chr1:190451378-190451379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537821133	chr1:190451387-190451388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550527266	chr1:190451394-190451395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1938400	chr1:190451396-190451397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1938399	chr1:190451398-190451399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1305872	chr1:190451417-190451418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574068529	chr1:190451426-190451427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544486547	chr1:190451427-190451428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71123099	chr1:190451433-190451434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555927764	chr1:190451450-190451451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12239154	chr1:190451454-190451455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12239585	chr1:190451458-190451459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112536501	chr1:190451462-190451463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12239116	chr1:190451465-190451466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535169147	chr1:190451466-190451467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12239289	chr1:190451469-190451470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555114802	chr1:190451470-190451471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113072117	chr1:190451479-190451480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547179297	chr1:190451480-190451481	Weak transcription	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190448600-190452200	Weak transcription	Right Atrium	heart
2	chr1:190449000-190453200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:190449800-190452600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:190449800-190453200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:190449800-190453200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:190449800-190453200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:190450200-190451000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:190452600-190452800	Enhancers	Fetal Intestine Large	intestine
9	chr1:190452800-190453200	Weak transcription	Fetal Intestine Large	intestine

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