Variant report

Variant	nsv818200
Chromosome Location	chr1:67268642-67282189
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	CEBPB	chr1:67280053-67280114	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:67270119-67270281	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:67280035-67280061	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:67280010-67280235	K562	blood:	n/a	chr1:67280107-67280118
5	CTCF	chr1:67281680-67281830	HFF-Myc	foreskin:	n/a	n/a
6	CTCF	chr1:67273880-67274030	AG10803	skin:	n/a	n/a
7	CTCF	chr1:67270840-67270990	Caco-2	colon:	n/a	n/a
8	JUN	chr1:67275659-67275871	HepG2	liver:	n/a	chr1:67275770-67275783
9	JUND	chr1:67275629-67275950	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:67278045-67278187	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:67274564-67274635	GM12878	blood:	n/a	n/a
12	SPI1	chr1:67280669-67280935	HL-60	blood:	n/a	chr1:67280806-67280815 chr1:67280804-67280817
13	SPI1	chr1:67280709-67280843	K562	blood:	n/a	chr1:67280806-67280815 chr1:67280804-67280817
14	SPI1	chr1:67280553-67280996	HL-60	blood:	n/a	chr1:67280806-67280815 chr1:67280804-67280817
15	STAT3	chr1:67273129-67273181	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr1:67274035-67274419	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr1:67273064-67273077	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:67279434..67281250-chr1:67282705..67284237,2	K562	blood:
2	chr1:67264702..67266931-chr1:67273930..67275533,2	K562	blood:
3	chr1:67265658..67268510-chr1:67270646..67272649,2	K562	blood:
4	chr1:67279522..67281219-chr1:67285864..67287900,2	K562	blood:

Variant related genes	Relation type
INSL5	TF binding region
ENSG00000172410	chromatin interactions

Extended variants
information (count: 313 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113518627	chr1:67270120-67270121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540777096	chr1:67270121-67270122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185154590	chr1:67270123-67270124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138356608	chr1:67270146-67270147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149242165	chr1:67270177-67270178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs527743051	chr1:67270237-67270238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544201525	chr1:67270242-67270243	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143470331	chr1:67270245-67270246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559714962	chr1:67270652-67270653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547507463	chr1:67270661-67270662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191252214	chr1:67270692-67270693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545752292	chr1:67270698-67270699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371101871	chr1:67270701-67270702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145988922	chr1:67270720-67270721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549287003	chr1:67270742-67270743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182576019	chr1:67270758-67270759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116307710	chr1:67270788-67270789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539008135	chr1:67270790-67270791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186910427	chr1:67270809-67270810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191373212	chr1:67270822-67270823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112746425	chr1:67270840-67270841	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139929039	chr1:67270841-67270842	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141798765	chr1:67270854-67270855	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs367578634	chr1:67270878-67270879	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376015170	chr1:67270913-67270914	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573729869	chr1:67270935-67270936	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542703389	chr1:67270940-67270941	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562581623	chr1:67270964-67270965	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs531518441	chr1:67270986-67270987	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112823779	chr1:67270987-67270988	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545003280	chr1:67271008-67271009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531591778	chr1:67271053-67271054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564810701	chr1:67271065-67271066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183549189	chr1:67271069-67271070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550490894	chr1:67271077-67271078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571967385	chr1:67271090-67271091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547348293	chr1:67271098-67271099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187894175	chr1:67271153-67271154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12083275	chr1:67271154-67271155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs193211077	chr1:67271165-67271166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570191598	chr1:67271168-67271169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547971653	chr1:67271204-67271205	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539204347	chr1:67271214-67271215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558999761	chr1:67271220-67271221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528380803	chr1:67271236-67271237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12062643	chr1:67271266-67271267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533772007	chr1:67271294-67271295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553848219	chr1:67271296-67271297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565797720	chr1:67271511-67271512	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573668656	chr1:67271538-67271539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67275200-67276000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:67275400-67276200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:67275400-67276200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:67275400-67276800	Enhancers	HSMM	muscle
5	chr1:67275600-67275800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:67275600-67276000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:67276000-67293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:67276200-67276600	Weak transcription	Aorta	Aorta
9	chr1:67276600-67276800	ZNF genes & repeats	Aorta	Aorta
10	chr1:67276800-67336000	Weak transcription	Aorta	Aorta
11	chr1:67280000-67318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:67280400-67282800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:67280800-67306400	Weak transcription	Left Ventricle	heart
14	chr1:67281600-67335800	Weak transcription	Ovary	ovary

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