Variant report

Variant	nsv1000290
Chromosome Location	chr1:86078495-86105379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:86046852..86049403-chr1:86080324..86084474,3	K562	blood:
2	chr1:86045439..86048632-chr1:86076708..86079652,4	K562	blood:
3	chr1:86045659..86048173-chr1:86076180..86078969,3	MCF-7	breast:
4	chr1:86073205..86075088-chr1:86076581..86078830,2	K562	blood:
5	chr1:86015322..86017725-chr1:86077110..86078959,2	MCF-7	breast:
6	chr1:86046590..86049403-chr1:86080225..86081824,2	K562	blood:
7	chr1:86042786..86044474-chr1:86092443..86094288,2	K562	blood:
8	chr1:86049608..86052158-chr1:86093207..86095698,2	MCF-7	breast:
9	chr1:86097057..86099684-chr1:86172989..86175805,2	K562	blood:
10	chr1:86071671..86072280-chr1:86095942..86096727,2	MCF-7	breast:
11	chr1:86073392..86075755-chr1:86077364..86079429,2	MCF-7	breast:
12	chr1:86040063..86041996-chr1:86079149..86082023,2	K562	blood:
13	chr1:86064019..86065868-chr1:86075742..86078671,2	K562	blood:
14	chr1:86046521..86048351-chr1:86075953..86079253,3	MCF-7	breast:
15	chr1:86045129..86047121-chr1:86093559..86095071,2	K562	blood:
16	chr1:86078662..86080625-chr1:86320837..86323478,2	K562	blood:
17	chr1:86078304..86079156-chr1:86158309..86159087,4	MCF-7	breast:
18	chr1:86045439..86048296-chr1:86077046..86078966,2	K562	blood:
19	chr1:85773549..85774394-chr1:86096198..86096774,2	MCF-7	breast:
20	chr1:86041810..86044112-chr1:86078850..86081561,2	K562	blood:
21	chr1:86045896..86049345-chr1:86088234..86091419,5	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYR61-2	chr1:86093804-86094050	XLOC_000278
2	lnc-CYR61-2	chr1:86093302-86093491	XLOC_000278
3	lnc-CYR61-2	chr1:86095934-86096393	NONHSAT004258
4	lnc-CYR61-2	chr1:86094753-86094780	NONHSAT004258
5	lnc-CYR61-2	chr1:86092998-86093499	NONHSAT004258
6	lnc-CYR61-2	chr1:86093997-86094487	NONHSAT004258

No data

Variant related genes	Relation type
ENSG00000142871	chromatin interactions
ENSG00000153904	chromatin interactions
ENSG00000230285	chromatin interactions
ENSG00000117174	chromatin interactions
ENSG00000272691	chromatin interactions

Extended variants
information (count: 933 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2389970	chr1:86078495-86078496	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570266284	chr1:86078500-86078501	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536100538	chr1:86078529-86078530	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555985601	chr1:86078578-86078579	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572681835	chr1:86078611-86078612	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188086554	chr1:86078616-86078617	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557885014	chr1:86078642-86078643	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs71654715	chr1:86078662-86078663	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543557818	chr1:86078671-86078672	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34132113	chr1:86078685-86078686	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141390329	chr1:86078710-86078711	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114678107	chr1:86078711-86078712	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192415375	chr1:86078715-86078716	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559100999	chr1:86078757-86078758	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184314301	chr1:86078786-86078787	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552523790	chr1:86078858-86078859	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545252421	chr1:86078895-86078896	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs113870938	chr1:86078904-86078905	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs77553746	chr1:86078987-86078988	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372515695	chr1:86078989-86078990	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550592603	chr1:86078991-86078992	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs944142	chr1:86079023-86079024	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs72944684	chr1:86079083-86079084	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544448299	chr1:86079323-86079324	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192598484	chr1:86079434-86079435	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566234103	chr1:86079464-86079465	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535017717	chr1:86079564-86079565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558385099	chr1:86079600-86079601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs2389971	chr1:86079613-86079614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs141520057	chr1:86079669-86079670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150862121	chr1:86079672-86079673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573826156	chr1:86079709-86079710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372156479	chr1:86079724-86079725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552905258	chr1:86079729-86079730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572951571	chr1:86079735-86079736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377260910	chr1:86079771-86079772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565230270	chr1:86079778-86079779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572568025	chr1:86079817-86079818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539901153	chr1:86079830-86079831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs367659847	chr1:86079841-86079842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116378172	chr1:86079929-86079930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374588820	chr1:86079944-86079945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560844239	chr1:86079956-86079957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367594896	chr1:86079991-86079992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114506372	chr1:86079994-86079995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541098803	chr1:86080025-86080026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541686447	chr1:86080051-86080052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371212653	chr1:86080052-86080053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546679131	chr1:86080092-86080093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371739063	chr1:86080144-86080145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
Bipolar disorder	19114987	CNVD

Chromatin state (count:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86071600-86078800	Enhancers	NHLF	lung
3	chr1:86073200-86082200	Weak transcription	Aorta	Aorta
4	chr1:86073800-86078600	Weak transcription	Hela-S3	cervix
5	chr1:86074200-86081200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:86076600-86078600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:86076600-86078600	Enhancers	Fetal Stomach	stomach
8	chr1:86076600-86079000	Enhancers	Fetal Muscle Leg	muscle
9	chr1:86076600-86079000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:86076600-86079200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:86076600-86079200	Enhancers	Placenta	Placenta
12	chr1:86076600-86079400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:86076600-86079400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:86076600-86079400	Enhancers	Fetal Lung	lung
15	chr1:86076600-86080200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:86076800-86078600	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:86076800-86078600	Enhancers	Lung	lung
18	chr1:86076800-86078800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:86076800-86078800	Enhancers	Adipose Nuclei	Adipose
20	chr1:86076800-86079000	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:86076800-86079200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:86076800-86079200	Enhancers	Fetal Intestine Large	intestine
23	chr1:86076800-86079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:86076800-86079400	Enhancers	HMEC	breast
25	chr1:86077000-86079000	Enhancers	Ovary	ovary
26	chr1:86077000-86079000	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:86077000-86079200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:86077000-86083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:86077200-86079200	Enhancers	Fetal Intestine Small	intestine
30	chr1:86077400-86079000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:86077400-86079000	Enhancers	Fetal Kidney	kidney
32	chr1:86077400-86079200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:86077400-86079200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:86077400-86079200	Flanking Active TSS	NH-A	brain
35	chr1:86077600-86078600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:86077600-86078800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:86077600-86079200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:86077600-86079200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:86077600-86079200	Enhancers	HUVEC	blood vessel
40	chr1:86077600-86079200	Enhancers	NHEK	skin
41	chr1:86077600-86079400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:86077600-86079600	Enhancers	HSMMtube	muscle
43	chr1:86077800-86078600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:86077800-86078800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:86077800-86078800	Enhancers	Colon Smooth Muscle	Colon
46	chr1:86077800-86079200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:86077800-86079400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:86077800-86079400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:86077800-86081800	Weak transcription	Right Atrium	heart
50	chr1:86078000-86078800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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