Variant report

Variant	esv3410154
Chromosome Location	chr1:190194429-190198127
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	CTCF	chr1:190195265-190195403	MCF-7	breast:	n/a	n/a
2	CTCF	chr1:190195287-190195354	Medullo	brain:	n/a	n/a
3	CTCF	chr1:190195285-190195401	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:190195293-190195400	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:190195200-190195350	BE2_C	brain:	n/a	n/a
6	CTCF	chr1:190195240-190195390	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr1:190195160-190195310	A549	lung:	n/a	n/a
8	CTCF	chr1:190195181-190195391	A549	lung:	n/a	n/a
9	FAM48A	chr1:190196803-190196890	GM12878	blood:	n/a	n/a
10	JUN	chr1:190195828-190195944	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr1:190195199-190195426	SK-N-SH_RA	brain:	n/a	n/a
12	RAD21	chr1:190195080-190195547	A549	lung:	n/a	n/a
13	RAD21	chr1:190195178-190195491	A549	lung:	n/a	n/a
14	RAD21	chr1:190195136-190195448	SK-N-SH_RA	brain:	n/a	n/a
15	RAD21	chr1:190195045-190195657	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr1:190195133-190195475	MCF-7	breast:	n/a	n/a
17	RAD21	chr1:190195225-190195460	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr1:190195205-190195423	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr1:190195165-190195449	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
BRINP3	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530816108	chr1:190194456-190194457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530118178	chr1:190194463-190194464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10800937	chr1:190194472-190194473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567310310	chr1:190194541-190194542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182977667	chr1:190194559-190194560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12130069	chr1:190194583-190194584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565755326	chr1:190194617-190194618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74596487	chr1:190194644-190194645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557576086	chr1:190194680-190194681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112849273	chr1:190194685-190194686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113377989	chr1:190194696-190194697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187590765	chr1:190194703-190194704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144858817	chr1:190194704-190194705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549650796	chr1:190194715-190194716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543365059	chr1:190194720-190194721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553670752	chr1:190194758-190194759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573369426	chr1:190194764-190194765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545538610	chr1:190194814-190194815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112367939	chr1:190194817-190194818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374865159	chr1:190194831-190194832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575731939	chr1:190194834-190194835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140169187	chr1:190194836-190194837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185042147	chr1:190194842-190194843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113100700	chr1:190194846-190194847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181080388	chr1:190194878-190194879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143885437	chr1:190194892-190194893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4633293	chr1:190194909-190194910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147242690	chr1:190194925-190194926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576538823	chr1:190194936-190194937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184368507	chr1:190194950-190194951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571340246	chr1:190194986-190194987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537173130	chr1:190195004-190195005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550668747	chr1:190195058-190195059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113747384	chr1:190195082-190195083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536217568	chr1:190195086-190195087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553396217	chr1:190195122-190195123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140670727	chr1:190195165-190195166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200969183	chr1:190195192-190195193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372241341	chr1:190195194-190195195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374344704	chr1:190195205-190195206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367704040	chr1:190195236-190195237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199613980	chr1:190195239-190195240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200983517	chr1:190195253-190195254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147573045	chr1:190195278-190195279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140712058	chr1:190195288-190195289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199855839	chr1:190195297-190195298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201813720	chr1:190195300-190195301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201980106	chr1:190195304-190195305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367902400	chr1:190195314-190195315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200881118	chr1:190195347-190195348	Weak transcription	TF binding region	1 gene(s)	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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190193400-190195800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:190196800-190204200	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links