Variant report

Variant	nsv947491
Chromosome Location	chr1:70377933-70382966
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	BACH1	chr1:70379723-70379865	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:70380740-70380890	AG09319	gingival:	n/a	n/a
3	EP300	chr1:70379689-70380182	SK-N-SH	brain:	n/a	n/a
4	FOXP2	chr1:70379718-70379972	SK-N-MC	brain:	n/a	n/a
5	GATA3	chr1:70379553-70380222	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr1:70379530-70380292	SK-N-SH	brain:	n/a	n/a
7	JUND	chr1:70379682-70380143	SK-N-SH	brain:	n/a	chr1:70379883-70379893
8	MAFF	chr1:70379708-70380065	K562	blood:	n/a	chr1:70379881-70379895 chr1:70379882-70379900
9	MAFF	chr1:70379701-70380070	HepG2	liver:	n/a	chr1:70379881-70379895 chr1:70379882-70379900
10	MAFK	chr1:70379701-70380078	HepG2	liver:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
11	MAFK	chr1:70379709-70380074	HepG2	liver:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
12	MAFK	chr1:70379696-70380091	Hela-S3	cervix:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
13	MAFK	chr1:70379604-70380215	GM12878	blood:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
14	MAFK	chr1:70379693-70380080	IMR90	lung:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
15	MAFK	chr1:70379703-70380073	K562	blood:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
16	MAFK	chr1:70379717-70380061	H1-hESC	embryonic stem cell:	n/a	chr1:70379883-70379898 chr1:70379883-70379899 chr1:70379878-70379898 chr1:70379881-70379895 chr1:70379887-70379898 chr1:70379886-70379900 chr1:70379888-70379899 chr1:70379885-70379894 chr1:70379880-70379896 chr1:70379882-70379892 chr1:70379888-70379899
17	NFIC	chr1:70379519-70380215	SK-N-SH	brain:	n/a	n/a
18	NFIC	chr1:70381026-70381488	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr1:70379620-70380065	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr1:70379619-70380278	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr1:70379709-70380183	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr1:70380936-70380976	ProgFib	skin:	n/a	n/a
23	POLR2A	chr1:70380819-70380913	ProgFib	skin:	n/a	n/a
24	POLR2A	chr1:70380952-70381417	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr1:70379622-70380104	SK-N-MC	brain:	n/a	n/a
26	REST	chr1:70380648-70380999	PFSK-1	brain:	n/a	n/a
27	STAT3	chr1:70378926-70379126	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF12	chr1:70380922-70381393	SK-N-SH	brain:	n/a	n/a
29	TCF12	chr1:70380944-70381554	SK-N-SH	brain:	n/a	n/a
30	TCF12	chr1:70379634-70380226	SK-N-SH	brain:	n/a	n/a
31	TEAD4	chr1:70379730-70380219	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: 221 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555697760	chr1:70377975-70377976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530711933	chr1:70378027-70378028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548818915	chr1:70378036-70378037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34022196	chr1:70378045-70378046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372924792	chr1:70378062-70378063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527672707	chr1:70378105-70378106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182596247	chr1:70378107-70378108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147406868	chr1:70378117-70378118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187112948	chr1:70378133-70378134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550073177	chr1:70378209-70378210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189595887	chr1:70378222-70378223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180739481	chr1:70378226-70378227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185715228	chr1:70378272-70378273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374675445	chr1:70378316-70378317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190081049	chr1:70378337-70378338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534597689	chr1:70378338-70378339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139615835	chr1:70378350-70378351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182643908	chr1:70378434-70378435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560760672	chr1:70378446-70378447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577638693	chr1:70378476-70378477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145308060	chr1:70378491-70378492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563308102	chr1:70378528-70378529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576943707	chr1:70378538-70378539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61047836	chr1:70378623-70378624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546395706	chr1:70378651-70378652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147209805	chr1:70378775-70378776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148686524	chr1:70378796-70378797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369011608	chr1:70378810-70378811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561211944	chr1:70378814-70378815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79127345	chr1:70378895-70378896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79621045	chr1:70378948-70378949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530111174	chr1:70379005-70379006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187155504	chr1:70379016-70379017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191487797	chr1:70379048-70379049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142288045	chr1:70379065-70379066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199942639	chr1:70379124-70379125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386367284	chr1:70379127-70379128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539212980	chr1:70379130-70379131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71071382	chr1:70379132-70379133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151247383	chr1:70379136-70379137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566329768	chr1:70379137-70379138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535346022	chr1:70379160-70379161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140520253	chr1:70379182-70379183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144251742	chr1:70379201-70379202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536672766	chr1:70379202-70379203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557000182	chr1:70379234-70379235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540563034	chr1:70379240-70379241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367802830	chr1:70379251-70379252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562000519	chr1:70379254-70379255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576914503	chr1:70379257-70379258	Enhancers 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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70375800-70378400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:70376400-70378200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:70376400-70378600	Enhancers	Hela-S3	cervix
4	chr1:70377000-70378200	Enhancers	Adipose Nuclei	Adipose
5	chr1:70377000-70381200	Enhancers	HUVEC	blood vessel
6	chr1:70377200-70378000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:70377200-70378000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:70377200-70378000	Enhancers	Osteobl	bone
9	chr1:70377200-70378200	Enhancers	Fetal Muscle Leg	muscle
10	chr1:70377200-70378400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:70377200-70378400	Enhancers	HSMM	muscle
12	chr1:70377200-70380000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:70377400-70380000	Weak transcription	NHLF	lung
14	chr1:70377400-70380600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:70377600-70379400	Weak transcription	Fetal Stomach	stomach
16	chr1:70377600-70380000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:70377800-70378200	Enhancers	Primary B cells from cord blood	blood
18	chr1:70377800-70379200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:70377800-70379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:70377800-70380400	Weak transcription	NHDF-Ad	bronchial
21	chr1:70377800-70380600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:70378000-70379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:70378000-70379200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:70378000-70379400	Weak transcription	Osteobl	bone
25	chr1:70378200-70379200	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:70378200-70380000	Weak transcription	Adipose Nuclei	Adipose
27	chr1:70378400-70379400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:70378400-70379600	Weak transcription	HSMM	muscle
29	chr1:70378400-70380600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:70378600-70379800	Weak transcription	Hela-S3	cervix
31	chr1:70379200-70379600	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:70379200-70379800	Enhancers	Fetal Muscle Leg	muscle
33	chr1:70379200-70380000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:70379200-70380000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:70379200-70380800	Enhancers	Ovary	ovary
36	chr1:70379200-70381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:70379200-70381000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:70379200-70381600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:70379200-70381600	Enhancers	Fetal Lung	lung
40	chr1:70379400-70379600	Enhancers	Small Intestine	intestine
41	chr1:70379400-70380200	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:70379400-70380800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:70379400-70380800	Enhancers	Colon Smooth Muscle	Colon
44	chr1:70379400-70381000	Enhancers	Fetal Stomach	stomach
45	chr1:70379400-70381600	Enhancers	HSMMtube	muscle
46	chr1:70379400-70381600	Enhancers	Osteobl	bone
47	chr1:70379600-70379800	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:70379600-70379800	Enhancers	HSMM	muscle
49	chr1:70379600-70380600	Weak transcription	Small Intestine	intestine
50	chr1:70379600-70381400	Enhancers	Brain Anterior Caudate	brain

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