Variant report

Variant	nsv1003070
Chromosome Location	chr1:186157240-186202008
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:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:47 , 50 per page) page: 1

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

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
ENSG00000157181	chromatin interactions
ENSG00000047410	chromatin interactions
ENSG00000143341	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000224691	chromatin interactions
ENSG00000116679	chromatin interactions

Extended variants
information (count: 1736 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1736 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116512477	chr1:186157274-186157275	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139508768	chr1:186157333-186157334	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530662526	chr1:186157351-186157352	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548766658	chr1:186157369-186157370	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560811353	chr1:186157371-186157372	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs67079542	chr1:186157381-186157382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188381431	chr1:186157392-186157393	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571185233	chr1:186157410-186157411	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538712559	chr1:186157439-186157440	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550737687	chr1:186157461-186157462	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531228836	chr1:186157481-186157482	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149279258	chr1:186157487-186157488	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541477022	chr1:186157540-186157541	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372704245	chr1:186157555-186157556	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537595204	chr1:186157556-186157557	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556010603	chr1:186157568-186157569	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574247253	chr1:186157582-186157583	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180841230	chr1:186157603-186157604	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184328834	chr1:186157629-186157630	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530526376	chr1:186157678-186157679	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552314739	chr1:186157691-186157692	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562982455	chr1:186157702-186157703	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545093602	chr1:186157735-186157736	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538038265	chr1:186157749-186157750	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74390926	chr1:186157751-186157752	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376984292	chr1:186157807-186157808	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112004654	chr1:186157826-186157827	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560950296	chr1:186157837-186157838	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34341308	chr1:186157923-186157924	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190440463	chr1:186157945-186157946	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546614238	chr1:186157968-186157969	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564889026	chr1:186158021-186158022	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182508613	chr1:186158061-186158062	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550598886	chr1:186158068-186158069	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568938147	chr1:186158080-186158081	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549843306	chr1:186158085-186158086	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79695264	chr1:186158091-186158092	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12085667	chr1:186158148-186158149	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567796186	chr1:186158196-186158197	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547247861	chr1:186158223-186158224	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145614956	chr1:186158224-186158225	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114931554	chr1:186158227-186158228	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs652111	chr1:186158240-186158241	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187181839	chr1:186158255-186158256	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs556954194	chr1:186158266-186158267	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571207651	chr1:186158289-186158290	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs368874793	chr1:186158368-186158369	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190808392	chr1:186158383-186158384	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73042580	chr1:186158399-186158400	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140685013	chr1:186158434-186158435	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	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:325 , 50 per page) page: 1 2 3 4 5 6 7

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	chr1:186145000-186158400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:186153000-186160600	Weak transcription	Spleen	Spleen
6	chr1:186155400-186157600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:186155400-186159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:186156000-186158400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:186156400-186158000	Flanking Active TSS	HMEC	breast
10	chr1:186156400-186158600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:186156400-186158800	Weak transcription	Pancreas	Pancrea
12	chr1:186156400-186159000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:186156400-186159000	Enhancers	HUVEC	blood vessel
14	chr1:186156600-186157800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:186156800-186157400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:186156800-186157400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:186156800-186157400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:186156800-186157400	Genic enhancers	Esophagus	oesophagus
19	chr1:186156800-186157600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:186156800-186157600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:186156800-186157800	Enhancers	K562	blood
22	chr1:186156800-186158000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186156800-186158000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:186156800-186158000	Flanking Active TSS	A549	lung
25	chr1:186156800-186158000	Enhancers	Hela-S3	cervix
26	chr1:186156800-186158000	Flanking Active TSS	NHEK	skin
27	chr1:186156800-186158000	Flanking Active TSS	Osteobl	bone
28	chr1:186156800-186158800	Enhancers	HSMMtube	muscle
29	chr1:186156800-186159200	Strong transcription	Liver	Liver
30	chr1:186156800-186159200	Strong transcription	Fetal Lung	lung
31	chr1:186157000-186157400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:186157000-186157400	Enhancers	Thymus	Thymus
33	chr1:186157000-186157400	Flanking Active TSS	HSMM	muscle
34	chr1:186157000-186157400	Flanking Active TSS	NH-A	brain
35	chr1:186157000-186158000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:186157000-186158000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr1:186157000-186158200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:186157000-186159000	Strong transcription	Left Ventricle	heart
39	chr1:186157000-186159200	Strong transcription	Adipose Nuclei	Adipose
40	chr1:186157000-186159400	Strong transcription	Aorta	Aorta
41	chr1:186157200-186157400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:186157200-186157800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:186157200-186157800	Flanking Active TSS	NHLF	lung
44	chr1:186157200-186158800	Weak transcription	Lung	lung
45	chr1:186157400-186157600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:186157400-186157600	Enhancers	NH-A	brain
47	chr1:186157400-186157800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:186157400-186157800	Enhancers	HSMM	muscle
49	chr1:186157400-186158400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:186157400-186159200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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