Variant report

Variant	nsv525320
Chromosome Location	chr1:92236048-92238167
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	POLR2A	chr1:92236190-92236313	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:92237627-92237642	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:92238005-92238120	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:92237802..92240400-chr1:92241191..92243565,2	K562	blood:
2	chr1:92226383..92229371-chr1:92235062..92236732,2	K562	blood:
3	chr1:92196718..92198594-chr1:92235219..92237131,2	K562	blood:
4	chr1:92231081..92233303-chr1:92233328..92236066,2	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region
ENSG00000069702	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs284191	chr1:92236048-92236049	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556303416	chr1:92236050-92236051	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566204766	chr1:92236057-92236058	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs17883681	chr1:92236065-92236066	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs284192	chr1:92236078-92236079	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560365551	chr1:92236095-92236096	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572400104	chr1:92236145-92236146	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542852138	chr1:92236197-92236198	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs17878451	chr1:92236247-92236248	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573251831	chr1:92236265-92236266	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531329809	chr1:92236308-92236309	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs17881382	chr1:92236310-92236311	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs35712852	chr1:92236313-92236314	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs114131625	chr1:92236329-92236330	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6700529	chr1:92236342-92236343	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186175493	chr1:92236365-92236366	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566019834	chr1:92236374-92236375	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530002365	chr1:92236382-92236383	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548434116	chr1:92236408-92236409	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544638542	chr1:92236411-92236412	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145752302	chr1:92236421-92236422	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189187193	chr1:92236430-92236431	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17881865	chr1:92236468-92236469	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72967150	chr1:92236517-92236518	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375345048	chr1:92236613-92236614	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538692367	chr1:92236652-92236653	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113887480	chr1:92236699-92236700	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553737179	chr1:92236733-92236734	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12039411	chr1:92236761-92236762	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542889095	chr1:92236770-92236771	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554882189	chr1:92236771-92236772	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576542157	chr1:92236892-92236893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370744137	chr1:92236912-92236913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180871328	chr1:92236928-92236929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs284193	chr1:92237000-92237001	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs17884240	chr1:92237028-92237029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs284194	chr1:92237037-92237038	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369017041	chr1:92237048-92237049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373334829	chr1:92237053-92237054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113251819	chr1:92237089-92237090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs284195	chr1:92237120-92237121	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548430491	chr1:92237155-92237156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376513421	chr1:92237195-92237196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569758510	chr1:92237218-92237219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529455848	chr1:92237233-92237234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371641852	chr1:92237263-92237264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535320917	chr1:92237276-92237277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199554837	chr1:92237283-92237284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552083319	chr1:92237318-92237319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17879255	chr1:92237361-92237362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
3	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
4	chr1:92219400-92238200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:92224400-92242800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:92225400-92241600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:92226600-92236400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:92227000-92257200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:92229200-92241600	Weak transcription	Esophagus	oesophagus
12	chr1:92230200-92240800	Weak transcription	Right Atrium	heart
13	chr1:92230400-92242400	Weak transcription	Lung	lung
14	chr1:92230600-92247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:92231000-92246800	Weak transcription	Hela-S3	cervix
16	chr1:92231200-92236400	Weak transcription	Fetal Lung	lung
17	chr1:92231200-92238200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:92231200-92240200	Weak transcription	Pancreas	Pancrea
19	chr1:92231400-92242600	Weak transcription	Stomach Mucosa	stomach
20	chr1:92232600-92243200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:92232800-92237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:92233200-92257000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:92233400-92246800	Weak transcription	A549	lung
24	chr1:92234000-92236800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:92234400-92236400	Enhancers	NHLF	lung
26	chr1:92234400-92236800	Enhancers	Fetal Muscle Leg	muscle
27	chr1:92234400-92236800	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:92234600-92236600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:92234600-92236800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:92234600-92236800	Genic enhancers	NHDF-Ad	bronchial
31	chr1:92234800-92236800	Genic enhancers	HepG2	liver
32	chr1:92235000-92236600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:92235000-92236800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:92235000-92236800	Enhancers	Liver	Liver
35	chr1:92235200-92240800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:92235400-92236800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:92235400-92238600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:92235400-92239000	Weak transcription	Ovary	ovary
39	chr1:92235400-92242400	Weak transcription	Fetal Stomach	stomach
40	chr1:92235600-92237000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:92235600-92237400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:92235600-92239800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:92235600-92239800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:92235600-92240800	Weak transcription	Placenta	Placenta
45	chr1:92235600-92241600	Weak transcription	Spleen	Spleen
46	chr1:92235600-92242200	Weak transcription	Psoas Muscle	Psoas
47	chr1:92235600-92242400	Weak transcription	Left Ventricle	heart
48	chr1:92235600-92242600	Weak transcription	Fetal Heart	heart
49	chr1:92235600-92243200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:92235600-92243600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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