Variant report

Variant	nsv441699
Chromosome Location	chr1:85911291-85915402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85911377..85913833-chr1:85913866..85915628,2	MCF-7	breast:
2	chr1:85863358..85866240-chr1:85910699..85913658,2	K562	blood:
3	chr1:85911377..85913833-chr1:85913866..85915628,2	MCF-7	breast:
4	chr1:85912844..85915674-chr1:86040925..86042753,2	MCF-7	breast:
5	chr1:85913232..85915386-chr1:85917552..85919124,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYR61-3	chr1:85913481-85913807	ENSG00000223653

Variant related genes	Relation type
ENSG00000153904	chromatin interactions
PKD1L1	miRNA target sites

Extended variants
information (count: 136 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372966929	chr1:85911298-85911299	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577894245	chr1:85911330-85911331	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150412003	chr1:85911369-85911370	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117922703	chr1:85911435-85911436	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563479580	chr1:85911440-85911441	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374789149	chr1:85911448-85911449	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180918438	chr1:85911476-85911477	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542597760	chr1:85911510-85911511	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184890508	chr1:85911518-85911519	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528103272	chr1:85911545-85911546	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551441868	chr1:85911559-85911560	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564604308	chr1:85911603-85911604	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60939986	chr1:85911634-85911635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555504010	chr1:85911647-85911648	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549915060	chr1:85911806-85911807	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569924298	chr1:85911847-85911848	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192330038	chr1:85911877-85911878	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184056346	chr1:85911920-85911921	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145175661	chr1:85911921-85911922	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534740069	chr1:85911983-85911984	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558145321	chr1:85911984-85911985	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56390427	chr1:85911994-85911995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189039095	chr1:85912025-85912026	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557185692	chr1:85912049-85912050	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12022443	chr1:85912072-85912073	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533481076	chr1:85912081-85912082	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542887240	chr1:85912082-85912083	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78417944	chr1:85912095-85912096	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553027547	chr1:85912097-85912098	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537478328	chr1:85912133-85912134	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2124140	chr1:85912143-85912144	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544649983	chr1:85912163-85912164	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569947443	chr1:85912235-85912236	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572337461	chr1:85912265-85912266	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148909091	chr1:85912273-85912274	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12022538	chr1:85912347-85912348	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs377432417	chr1:85912440-85912441	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563535726	chr1:85912447-85912448	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557752604	chr1:85912503-85912504	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143586496	chr1:85912543-85912544	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114752553	chr1:85912548-85912549	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201488330	chr1:85912555-85912556	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs600098	chr1:85912584-85912585	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551761511	chr1:85912599-85912600	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549355882	chr1:85912626-85912627	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191706808	chr1:85912694-85912695	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537541576	chr1:85912699-85912700	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557520249	chr1:85912711-85912712	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17388780	chr1:85912729-85912730	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536026278	chr1:85912809-85912810	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85886400-85914200	Weak transcription	HSMMtube	muscle
2	chr1:85893800-85916800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:85899200-85914800	Weak transcription	Esophagus	oesophagus
4	chr1:85901400-85923000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85902600-85912200	Weak transcription	Pancreas	Pancrea
6	chr1:85904400-85914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:85905000-85912400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:85905200-85912000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:85905200-85912600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:85905200-85912800	Weak transcription	Left Ventricle	heart
11	chr1:85905200-85913000	Weak transcription	Fetal Kidney	kidney
12	chr1:85905200-85914800	Weak transcription	Small Intestine	intestine
13	chr1:85905400-85913400	Weak transcription	Fetal Lung	lung
14	chr1:85906200-85912400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:85906800-85912800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:85906800-85913000	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:85906800-85914200	Weak transcription	Ovary	ovary
18	chr1:85907000-85913400	Weak transcription	HepG2	liver
19	chr1:85907000-85914200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:85907000-85914600	Weak transcription	Fetal Stomach	stomach
21	chr1:85907000-85914800	Weak transcription	Aorta	Aorta
22	chr1:85907000-85914800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:85907000-85919600	Weak transcription	Right Atrium	heart
24	chr1:85907200-85911400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:85907200-85912200	Weak transcription	Liver	Liver
26	chr1:85907200-85912200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:85907200-85912800	Weak transcription	Psoas Muscle	Psoas
28	chr1:85907400-85912200	Weak transcription	HUVEC	blood vessel
29	chr1:85907400-85912200	Weak transcription	NHLF	lung
30	chr1:85909200-85916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:85910000-85911600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:85910200-85911600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:85910200-85911800	Strong transcription	Fetal Intestine Large	intestine
34	chr1:85910200-85913200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:85910200-85913400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:85910400-85911400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:85910400-85912000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:85910400-85916000	Weak transcription	HMEC	breast
39	chr1:85910600-85912200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:85910600-85912800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:85910600-85912800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:85910600-85912800	Weak transcription	NH-A	brain
43	chr1:85910600-85914800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:85910800-85912400	Weak transcription	Brain Anterior Caudate	brain
45	chr1:85910800-85912800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:85911000-85912200	Strong transcription	HSMM	muscle
47	chr1:85911200-85912600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:85911200-85913000	Genic enhancers	Osteobl	bone
49	chr1:85911200-85914000	Weak transcription	Stomach Mucosa	stomach
50	chr1:85911200-85917200	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links