Variant report

Variant	nsv1002503
Chromosome Location	chr1:186156060-186206188
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:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:186152958..186154907-chr1:186156624..186160486,3	K562	blood:
2	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
3	chr1:186124541..186125379-chr1:186181423..186182257,5	MCF-7	breast:
4	chr1:185689440..185690198-chr1:186181442..186182506,4	MCF-7	breast:
5	chr1:185284673..185286716-chr1:186197993..186200205,2	MCF-7	breast:
6	chr1:186146345..186149254-chr1:186156186..186157868,2	MCF-7	breast:
7	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
8	chr1:185975804..185978755-chr1:186156792..186158359,2	MCF-7	breast:
9	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
10	chr1:186157994..186159538-chr1:186169856..186171398,2	MCF-7	breast:
11	chr1:186156618..186158956-chr1:186211856..186214828,2	MCF-7	breast:
12	chr1:186048997..186051706-chr1:186197290..186199226,2	K562	blood:
13	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
14	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
15	chr1:186124449..186125420-chr1:186181461..186182598,6	MCF-7	breast:
16	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
17	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
18	chr1:185689564..185690516-chr1:186181513..186182292,3	MCF-7	breast:
19	chr1:186124564..186125385-chr1:186181815..186182420,2	K562	blood:
20	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
21	chr1:186123615..186126375-chr1:186164064..186165601,2	MCF-7	breast:
22	chr1:185967197..185968048-chr1:186181571..186182366,3	MCF-7	breast:
23	chr1:186122447..186124643-chr1:186176305..186178573,4	MCF-7	breast:
24	chr1:185782674..185783372-chr1:186181707..186182270,2	MCF-7	breast:
25	chr1:186121917..186122845-chr1:186201039..186202141,3	MCF-7	breast:
26	chr1:185966106..185968754-chr1:186180743..186183363,2	MCF-7	breast:
27	chr1:186096850..186099197-chr1:186175663..186177778,2	MCF-7	breast:
28	chr1:186162031..186163745-chr1:186166331..186169038,2	MCF-7	breast:
29	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
30	chr1:186157994..186159538-chr1:186169856..186171398,2	MCF-7	breast:
31	chr1:185782255..185783272-chr1:186181370..186182154,4	MCF-7	breast:
32	chr1:185782229..185782806-chr1:186181471..186182170,3	K562	blood:
33	chr1:186163396..186166003-chr1:186180456..186181975,2	K562	blood:
34	chr1:186193196..186195433-chr12:120730117..120732240,2	MCF-7	breast:
35	chr1:185649957..185650829-chr1:186181415..186182551,4	MCF-7	breast:
36	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
37	chr1:185702828..185703339-chr1:186181550..186182148,2	MCF-7	breast:
38	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
39	chr1:186195416..186198253-chr1:186344477..186346582,2	K562	blood:
40	chr1:186120755..186125088-chr1:186200720..186204325,6	MCF-7	breast:
41	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
42	chr1:186204908..186205565-chr20:39591185..39591862,2	MCF-7	breast:
43	chr1:185689629..185690434-chr1:186181457..186182167,3	K562	blood:
44	chr1:185967238..185968214-chr1:186181474..186182740,8	MCF-7	breast:
45	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
46	chr1:186162031..186163745-chr1:186166331..186169038,2	MCF-7	breast:
47	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
48	chr1:185689319..185692155-chr1:186180753..186183476,2	MCF-7	breast:
49	chr1:186106791..186108903-chr1:186157720..186159238,2	MCF-7	breast:
50	chr1:186163396..186166003-chr1:186180456..186181975,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HMCN1	hsa-miR-335-5p	chr1:186159069-186159092

Variant related genes	Relation type
ENSG00000143341	chromatin interactions
ENSG00000224691	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000047410	chromatin interactions
ENSG00000116679	chromatin interactions
ENSG00000157181	chromatin interactions

Extended variants
information (count: 1933 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1933 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193220621	chr1:186156113-186156114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200279097	chr1:186156124-186156125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534408135	chr1:186156125-186156126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74136066	chr1:186156126-186156127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561171575	chr1:186156127-186156128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553075784	chr1:186156169-186156170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35658684	chr1:186156195-186156196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577671035	chr1:186156209-186156210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546340601	chr1:186156265-186156266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564040404	chr1:186156314-186156315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34529997	chr1:186156333-186156334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114761772	chr1:186156351-186156352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs202102102	chr1:186156364-186156365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373407740	chr1:186156365-186156366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201212238	chr1:186156366-186156367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111647783	chr1:186156370-186156371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576784358	chr1:186156381-186156382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544157496	chr1:186156450-186156451	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562049020	chr1:186156488-186156489	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529329010	chr1:186156498-186156499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79793331	chr1:186156502-186156503	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs680638	chr1:186156514-186156515	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559757048	chr1:186156550-186156551	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115373972	chr1:186156620-186156621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200219437	chr1:186156624-186156625	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546281129	chr1:186156643-186156644	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145572581	chr1:186156664-186156665	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569541326	chr1:186156681-186156682	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369524629	chr1:186156781-186156782	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116817537	chr1:186156786-186156787	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs137857888	chr1:186156788-186156789	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566917077	chr1:186156818-186156819	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534560645	chr1:186156819-186156820	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552706565	chr1:186156838-186156839	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566434291	chr1:186156906-186156907	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141642775	chr1:186156963-186156964	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185494834	chr1:186156964-186156965	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558363949	chr1:186157019-186157020	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188771010	chr1:186157040-186157041	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200921760	chr1:186157043-186157044	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192080238	chr1:186157059-186157060	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184128357	chr1:186157060-186157061	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371565887	chr1:186157075-186157076	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376941835	chr1:186157113-186157114	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574260204	chr1:186157125-186157126	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140641844	chr1:186157126-186157127	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61831359	chr1:186157139-186157140	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541382331	chr1:186157151-186157152	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367647117	chr1:186157158-186157159	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74136067	chr1:186157160-186157161	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
2	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:186136200-186157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:186136800-186157000	Weak transcription	Aorta	Aorta
5	chr1:186145000-186158400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:186148000-186157000	Weak transcription	Left Ventricle	heart
7	chr1:186151200-186156800	Enhancers	NHEK	skin
8	chr1:186153000-186156800	Weak transcription	Esophagus	oesophagus
9	chr1:186153000-186156800	Weak transcription	Lung	lung
10	chr1:186153000-186160600	Weak transcription	Spleen	Spleen
11	chr1:186153200-186156400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:186153200-186156400	Weak transcription	Right Atrium	heart
13	chr1:186153200-186156800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:186153400-186156800	Weak transcription	Hela-S3	cervix
15	chr1:186153400-186157000	Weak transcription	Thymus	Thymus
16	chr1:186153400-186157200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:186153600-186156800	Weak transcription	Fetal Lung	lung
18	chr1:186153600-186156800	Weak transcription	K562	blood
19	chr1:186153600-186157000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:186153800-186156400	Weak transcription	A549	lung
21	chr1:186153800-186156800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:186153800-186156800	Weak transcription	Liver	Liver
23	chr1:186153800-186157000	Weak transcription	Adipose Nuclei	Adipose
24	chr1:186153800-186157000	Enhancers	NHDF-Ad	bronchial
25	chr1:186154000-186156400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:186154200-186156800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:186154200-186156800	Weak transcription	HSMMtube	muscle
28	chr1:186155000-186156200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:186155400-186157600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:186155400-186159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:186155600-186156400	Enhancers	HMEC	breast
32	chr1:186155600-186156800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:186155600-186156800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:186155600-186156800	Enhancers	Osteobl	bone
35	chr1:186155600-186157200	Enhancers	NHLF	lung
36	chr1:186155800-186157000	Enhancers	HSMM	muscle
37	chr1:186156000-186156200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:186156000-186157000	Enhancers	NH-A	brain
39	chr1:186156000-186158400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:186156200-186156600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:186156200-186157000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:186156400-186156800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:186156400-186156800	Enhancers	A549	lung
44	chr1:186156400-186158000	Flanking Active TSS	HMEC	breast
45	chr1:186156400-186158600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:186156400-186158800	Weak transcription	Pancreas	Pancrea
47	chr1:186156400-186159000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:186156400-186159000	Enhancers	HUVEC	blood vessel
49	chr1:186156600-186157800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:186156800-186157200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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