Variant report

Variant	nsv516470
Chromosome Location	chr1:85239564-85241298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85238570..85240771-chr1:85245143..85248001,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9701126	chr1:85239564-85239565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558142877	chr1:85239576-85239577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117776920	chr1:85239642-85239643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528054062	chr1:85239658-85239659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2389775	chr1:85239701-85239702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116660814	chr1:85239739-85239740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76031182	chr1:85239757-85239758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550455454	chr1:85239819-85239820	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544602202	chr1:85239821-85239822	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567452524	chr1:85239846-85239847	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139861787	chr1:85239853-85239854	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs79131550	chr1:85239872-85239873	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375111840	chr1:85239899-85239900	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112771488	chr1:85239939-85239940	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4508028	chr1:85239976-85239977	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs376669329	chr1:85240065-85240066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2389776	chr1:85240107-85240108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569465107	chr1:85240137-85240138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2389777	chr1:85240181-85240182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561443718	chr1:85240198-85240199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115623207	chr1:85240216-85240217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537743559	chr1:85240223-85240224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11576745	chr1:85240246-85240247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs114720732	chr1:85240321-85240322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550403769	chr1:85240322-85240323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144875694	chr1:85240380-85240381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147901388	chr1:85240392-85240393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572529269	chr1:85240442-85240443	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs544559135	chr1:85240443-85240444	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs186635168	chr1:85240584-85240585	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs943046	chr1:85240599-85240600	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552583497	chr1:85240612-85240613	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191094853	chr1:85240626-85240627	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544491029	chr1:85240642-85240643	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373256859	chr1:85240713-85240714	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139935663	chr1:85240714-85240715	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61770433	chr1:85240736-85240737	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9660386	chr1:85240754-85240755	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528495457	chr1:85240778-85240779	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551443477	chr1:85240782-85240783	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182883149	chr1:85240794-85240795	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78600217	chr1:85240821-85240822	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557619596	chr1:85241043-85241044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74592160	chr1:85241092-85241093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536421563	chr1:85241103-85241104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61770434	chr1:85241126-85241127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75542062	chr1:85241130-85241131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538718427	chr1:85241147-85241148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17115416	chr1:85241182-85241183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575154893	chr1:85241208-85241209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85231400-85240400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:85235600-85240400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:85237800-85239800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:85237800-85240000	Enhancers	NHEK	skin
5	chr1:85238000-85239600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:85238000-85239800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:85238000-85240800	Enhancers	Fetal Brain Female	brain
8	chr1:85238000-85241200	Enhancers	HMEC	breast
9	chr1:85238200-85239800	Enhancers	Fetal Intestine Small	intestine
10	chr1:85238200-85240200	Enhancers	Esophagus	oesophagus
11	chr1:85238200-85240600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:85238200-85241000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:85238600-85239600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:85238600-85239800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:85238600-85239800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:85238600-85239800	Weak transcription	Fetal Brain Male	brain
17	chr1:85238600-85240000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:85238600-85242000	Weak transcription	Osteobl	bone
19	chr1:85239000-85239600	Weak transcription	Pancreas	Pancrea
20	chr1:85239000-85240200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:85239000-85241400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:85239200-85239600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:85239200-85244800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:85239400-85240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:85239400-85240800	Weak transcription	Brain Germinal Matrix	brain
26	chr1:85239600-85239800	Enhancers	Stomach Mucosa	stomach
27	chr1:85239600-85241200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:85239600-85241200	Enhancers	Brain Anterior Caudate	brain
29	chr1:85239600-85241200	Enhancers	Pancreas	Pancrea
30	chr1:85239800-85240000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:85239800-85240200	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:85239800-85240400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:85239800-85240800	Enhancers	Fetal Brain Male	brain
34	chr1:85239800-85241200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:85240000-85241200	Weak transcription	NHEK	skin
36	chr1:85240000-85241600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:85240200-85240600	Weak transcription	Esophagus	oesophagus
38	chr1:85240200-85240800	Enhancers	Brain Hippocampus Middle	brain
39	chr1:85240200-85241000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:85240200-85245200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:85240400-85240600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:85240400-85241000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:85240400-85241000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:85240400-85244800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:85240600-85240800	Enhancers	Esophagus	oesophagus
46	chr1:85240600-85241000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr1:85240600-85241200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:85240600-85243200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:85240800-85241000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:85240800-85241000	Enhancers	Brain Germinal Matrix	brain

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