Variant report

Variant	nsv947190
Chromosome Location	chr1:85229432-85235799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85235556..85238288-chr20:47536912..47539805,2	MCF-7	breast:
2	chr1:85223699..85225270-chr1:85227472..85229574,2	K562	blood:
3	chr1:78466262..78468828-chr1:85227463..85229470,2	K562	blood:
4	chr1:85220070..85222674-chr1:85230426..85232342,2	K562	blood:

Variant related genes	Relation type
ENSG00000124198	chromatin interactions

Extended variants
information (count: 307 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:307 , 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	rs578096988	chr1:85229463-85229464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs543809349	chr1:85229494-85229495	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376366299	chr1:85229495-85229496	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs147223700	chr1:85229496-85229497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191960108	chr1:85229520-85229521	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1750485	chr1:85229561-85229562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs138816668	chr1:85229574-85229575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545121304	chr1:85229594-85229595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs17377156	chr1:85229595-85229596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs11807815	chr1:85229664-85229665	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371615396	chr1:85229688-85229689	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1770561	chr1:85229693-85229694	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs529953063	chr1:85229724-85229725	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1750484	chr1:85229792-85229793	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566702369	chr1:85229840-85229841	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs538442140	chr1:85229904-85229905	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs551935428	chr1:85229909-85229910	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs571732998	chr1:85229911-85229912	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs537449741	chr1:85229934-85229935	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs141274766	chr1:85229937-85229938	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs573948497	chr1:85229946-85229947	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs76856532	chr1:85229948-85229949	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs536993047	chr1:85229955-85229956	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs553373775	chr1:85229959-85229960	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs573411856	chr1:85229966-85229967	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs545170954	chr1:85229967-85229968	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs11805789	chr1:85229989-85229990	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75353437	chr1:85230015-85230016	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376317221	chr1:85230028-85230029	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs150744952	chr1:85230049-85230050	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10873653	chr1:85230072-85230073	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs529650541	chr1:85230096-85230097	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562818762	chr1:85230119-85230120	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11804153	chr1:85230140-85230141	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560167492	chr1:85230165-85230166	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs11805824	chr1:85230187-85230188	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139116068	chr1:85230190-85230191	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568359339	chr1:85230249-85230250	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372446360	chr1:85230266-85230267	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184564180	chr1:85230289-85230290	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548064461	chr1:85230308-85230309	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs189711165	chr1:85230317-85230318	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs536229461	chr1:85230324-85230325	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs149907623	chr1:85230328-85230329	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534140764	chr1:85230373-85230374	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs573424855	chr1:85230415-85230416	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538858400	chr1:85230433-85230434	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs373747346	chr1:85230446-85230447	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575430779	chr1:85230482-85230483	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs543946207	chr1:85230485-85230486	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85204200-85230400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:85216800-85230000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:85225000-85229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:85225200-85229800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:85225400-85229600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:85225400-85229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:85225400-85229600	Weak transcription	HMEC	breast
8	chr1:85225800-85230000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:85225800-85233600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:85226000-85229600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:85226000-85230000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:85226000-85230400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:85226800-85230000	Weak transcription	Fetal Brain Male	brain
14	chr1:85228400-85230000	Enhancers	Fetal Heart	heart
15	chr1:85228600-85230400	Enhancers	Brain Germinal Matrix	brain
16	chr1:85228800-85238200	Weak transcription	Stomach Mucosa	stomach
17	chr1:85229200-85229800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:85229200-85230600	Enhancers	Fetal Brain Female	brain
19	chr1:85229400-85229600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:85229400-85229800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:85229400-85230600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:85229400-85230600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:85229400-85230600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:85229400-85230800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:85229400-85230800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:85229400-85230800	Enhancers	Brain Anterior Caudate	brain
27	chr1:85229600-85229800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:85229600-85229800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr1:85229600-85229800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:85229600-85230000	Enhancers	Brain Hippocampus Middle	brain
31	chr1:85229600-85230000	Enhancers	Fetal Lung	lung
32	chr1:85229600-85230200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:85229600-85230200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:85229600-85230200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:85229600-85230400	Enhancers	HMEC	breast
36	chr1:85229600-85230800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:85229600-85230800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:85229800-85230000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:85229800-85230000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:85229800-85230200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:85229800-85230200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:85229800-85230200	Bivalent Enhancer	NHEK	skin
43	chr1:85229800-85230400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr1:85229800-85230400	Enhancers	Placenta	Placenta
45	chr1:85230000-85230200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:85230000-85230200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:85230000-85230200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr1:85230000-85230200	Bivalent Enhancer	NH-A	brain
49	chr1:85230000-85230400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr1:85230000-85230600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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