Variant report

Variant	nsv965125
Chromosome Location	chr3:160195278-160198798
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160191885..160194224-chr3:160197064..160198721,2	MCF-7	breast:
2	chr3:160193260..160196104-chr3:160198716..160201117,2	K562	blood:
3	chr3:160193260..160196104-chr3:160198716..160201117,2	K562	blood:
4	chr3:160197463..160200948-chr3:160202172..160205556,5	K562	blood:
5	chr3:160195689..160198943-chr3:160208326..160210743,3	K562	blood:
6	chr3:160165732..160168526-chr3:160196685..160198587,2	MCF-7	breast:
7	chr3:160198112..160200479-chr3:160205569..160207297,2	K562	blood:
8	chr3:160189211..160191457-chr3:160193439..160195639,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238427	chromatin interactions
ENSG00000213186	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9830588	chr3:160195290-160195291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111961071	chr3:160195291-160195292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535767778	chr3:160195312-160195313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550829694	chr3:160195324-160195325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568989485	chr3:160195395-160195396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150262535	chr3:160195418-160195419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189171401	chr3:160195433-160195434	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557614730	chr3:160195441-160195442	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552757812	chr3:160195460-160195461	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs57117497	chr3:160195562-160195563	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181055616	chr3:160195613-160195614	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553577724	chr3:160195620-160195621	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573280659	chr3:160195660-160195661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112965493	chr3:160195676-160195677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs57050097	chr3:160195677-160195678	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs13314803	chr3:160195729-160195730	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185632155	chr3:160195794-160195795	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555714449	chr3:160195820-160195821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564479970	chr3:160195883-160195884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146609498	chr3:160195964-160195965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190346777	chr3:160196149-160196150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540700458	chr3:160196160-160196161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370791045	chr3:160196244-160196245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112159528	chr3:160196245-160196246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550641410	chr3:160196260-160196261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569129763	chr3:160196280-160196281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182929217	chr3:160196307-160196308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186807131	chr3:160196323-160196324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192117388	chr3:160196349-160196350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114056022	chr3:160196355-160196356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555031664	chr3:160196377-160196378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575357583	chr3:160196392-160196393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542568174	chr3:160196397-160196398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537847961	chr3:160196548-160196549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112237186	chr3:160196570-160196571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575900246	chr3:160196583-160196584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546142554	chr3:160196586-160196587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183887587	chr3:160196610-160196611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573450487	chr3:160196631-160196632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543332889	chr3:160196643-160196644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540763297	chr3:160196644-160196645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562152734	chr3:160196654-160196655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529352664	chr3:160196659-160196660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189242452	chr3:160196712-160196713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562707293	chr3:160196744-160196745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189676937	chr3:160196779-160196780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551365930	chr3:160196783-160196784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115207314	chr3:160196800-160196801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34873911	chr3:160196801-160196802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34418590	chr3:160196802-160196803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160190600-160199600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:160192400-160195600	Weak transcription	HSMMtube	muscle
3	chr3:160192800-160195600	Weak transcription	HSMM	muscle
4	chr3:160193000-160195600	Weak transcription	NHLF	lung
5	chr3:160193400-160195400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:160193400-160195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:160193400-160195600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:160193400-160213000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:160194200-160195600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:160194800-160197800	Enhancers	Osteobl	bone
11	chr3:160195000-160195800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:160195000-160196000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:160195200-160195600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:160195200-160195800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:160195200-160196000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:160195200-160196000	Enhancers	NHDF-Ad	bronchial
17	chr3:160195200-160196200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:160195200-160196200	Enhancers	NH-A	brain
19	chr3:160195200-160196400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:160195200-160196400	Enhancers	K562	blood
21	chr3:160195200-160197400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:160195400-160195600	Enhancers	Brain Anterior Caudate	brain
23	chr3:160195400-160195800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:160195400-160195800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:160195400-160196000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:160195400-160196200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:160195400-160196600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:160195600-160195800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:160195600-160195800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:160195600-160196000	Enhancers	Brain Hippocampus Middle	brain
31	chr3:160195600-160196200	Enhancers	HSMMtube	muscle
32	chr3:160195600-160196200	Enhancers	NHLF	lung
33	chr3:160195600-160196400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:160195600-160196400	Enhancers	HSMM	muscle
35	chr3:160195600-160199600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:160195800-160196000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:160195800-160196200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:160195800-160203600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:160196000-160196200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:160196000-160199400	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:160196000-160199800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:160196000-160203000	Weak transcription	NHDF-Ad	bronchial
43	chr3:160196200-160196400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:160196200-160196400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:160196200-160203800	Weak transcription	NH-A	brain
46	chr3:160196200-160203800	Weak transcription	NHLF	lung
47	chr3:160196400-160200600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:160196400-160203000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:160196400-160203000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:160196600-160197000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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