Variant report

Variant	esv3452085
Chromosome Location	chr1:70381478-70382052
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	NFIC	chr1:70381026-70381488	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr1:70380944-70381554	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70356724..70359673-chr1:70379486..70382250,2	K562	blood:

Variant related genes	Relation type
PIN1P1	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557133889	chr1:70381492-70381493	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs35287160	chr1:70381500-70381501	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562238598	chr1:70381505-70381506	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34285074	chr1:70381508-70381509	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs34171910	chr1:70381531-70381532	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs34091648	chr1:70381533-70381534	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs34894052	chr1:70381556-70381557	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575735336	chr1:70381609-70381610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114704112	chr1:70381648-70381649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564437746	chr1:70381652-70381653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533449031	chr1:70381668-70381669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35481477	chr1:70381669-70381670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546148018	chr1:70381672-70381673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368034744	chr1:70381706-70381707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374933352	chr1:70381713-70381714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371233041	chr1:70381714-70381715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372336265	chr1:70381719-70381720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376619754	chr1:70381722-70381723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374151765	chr1:70381724-70381725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374044606	chr1:70381728-70381729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368592156	chr1:70381730-70381731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36161673	chr1:70381735-70381736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559731862	chr1:70381737-70381738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376926978	chr1:70381741-70381742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36148986	chr1:70381742-70381743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372626981	chr1:70381743-70381744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369119830	chr1:70381747-70381748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377217114	chr1:70381759-70381760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373203657	chr1:70381760-70381761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367835096	chr1:70381765-70381766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376140870	chr1:70381782-70381783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191950632	chr1:70381783-70381784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36165768	chr1:70381790-70381791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs68190267	chr1:70381791-70381792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9425143	chr1:70381792-70381793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12725244	chr1:70381801-70381802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9425144	chr1:70381803-70381804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4378154	chr1:70381815-70381816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74216029	chr1:70381822-70381823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373428103	chr1:70381824-70381825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111657731	chr1:70381825-70381826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9425145	chr1:70381832-70381833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369862487	chr1:70381848-70381849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371367155	chr1:70381867-70381868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12743257	chr1:70381879-70381880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376371100	chr1:70381885-70381886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370790349	chr1:70381886-70381887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34085283	chr1:70381904-70381905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376154817	chr1:70381909-70381910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369146577	chr1:70381914-70381915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70379200-70381600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:70379200-70381600	Enhancers	Fetal Lung	lung
3	chr1:70379400-70381600	Enhancers	HSMMtube	muscle
4	chr1:70379400-70381600	Enhancers	Osteobl	bone
5	chr1:70379800-70381600	Enhancers	Hela-S3	cervix
6	chr1:70380000-70381600	Enhancers	NHLF	lung
7	chr1:70380200-70381600	Enhancers	HSMM	muscle
8	chr1:70380400-70381600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:70380600-70381600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:70380600-70381600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:70380800-70381600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:70381000-70381600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:70381200-70381600	Flanking Active TSS	HUVEC	blood vessel
14	chr1:70381200-70381600	Enhancers	NHDF-Ad	bronchial
15	chr1:70381200-70387000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:70381400-70381600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:70381600-70384000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links