Variant report

Variant	nsv520125
Chromosome Location	chr3:143020870-143029022
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143018946..143021692-chr3:143026388..143029368,2	K562	blood:
2	chr3:143022335..143023905-chr3:143024400..143026913,2	K562	blood:
3	chr3:143022335..143023905-chr3:143024400..143026913,2	K562	blood:
4	chr3:143018946..143021692-chr3:143026388..143029368,2	K562	blood:
5	chr3:142947986..142949747-chr3:143028626..143030178,2	K562	blood:
6	chr3:143028279..143030490-chr3:143036319..143039500,3	K562	blood:
7	chr3:142918145..142921332-chr3:143025862..143029822,3	K562	blood:
8	chr3:142895472..142897996-chr3:143019191..143020977,2	K562	blood:
9	chr3:143015059..143017417-chr3:143020169..143021690,2	MCF-7	breast:
10	chr3:143026689..143032158-chr3:143032635..143039297,9	K562	blood:
11	chr3:143026085..143028072-chr3:143030136..143031917,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240888	chromatin interactions

Extended variants
information (count: 331 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1393072	chr3:143020870-143020871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560867560	chr3:143020874-143020875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531774511	chr3:143020917-143020918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183925270	chr3:143020963-143020964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188212686	chr3:143020967-143020968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530005315	chr3:143020972-143020973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371275677	chr3:143020985-143020986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75284010	chr3:143021018-143021019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77877800	chr3:143021046-143021047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548145821	chr3:143021072-143021073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566372011	chr3:143021083-143021084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554393643	chr3:143021096-143021097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75282167	chr3:143021123-143021124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181434808	chr3:143021204-143021205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116495888	chr3:143021205-143021206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs374745915	chr3:143021278-143021279	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186498062	chr3:143021314-143021315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574310160	chr3:143021325-143021326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189409933	chr3:143021331-143021332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554165257	chr3:143021342-143021343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572706129	chr3:143021361-143021362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546403312	chr3:143021380-143021381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369827750	chr3:143021387-143021388	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564636605	chr3:143021397-143021398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs551766076	chr3:143021414-143021415	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs73008223	chr3:143021416-143021417	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145748770	chr3:143021454-143021455	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562125321	chr3:143021497-143021498	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529265069	chr3:143021523-143021524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548513489	chr3:143021537-143021538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113752970	chr3:143021544-143021545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559402044	chr3:143021549-143021550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115224234	chr3:143021556-143021557	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181937249	chr3:143021570-143021571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs16853385	chr3:143021578-143021579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537954045	chr3:143021584-143021585	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116160872	chr3:143021590-143021591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111250178	chr3:143021610-143021611	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535083675	chr3:143021636-143021637	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs554538914	chr3:143021696-143021697	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs373686646	chr3:143021732-143021733	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs78096213	chr3:143021743-143021744	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs540110184	chr3:143021757-143021758	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75828423	chr3:143021792-143021793	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148966935	chr3:143021813-143021814	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186639446	chr3:143021839-143021840	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555578675	chr3:143021842-143021843	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs9842051	chr3:143021856-143021857	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191020049	chr3:143021887-143021888	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541578010	chr3:143021899-143021900	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143006000-143021400	Weak transcription	Esophagus	oesophagus
2	chr3:143008000-143025000	Weak transcription	Gastric	stomach
3	chr3:143015200-143039600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:143017000-143022400	Enhancers	Fetal Thymus	thymus
5	chr3:143017000-143022600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:143017200-143021200	Enhancers	Primary T cells from cord blood	blood
7	chr3:143017800-143021000	Weak transcription	HSMMtube	muscle
8	chr3:143018200-143026400	Weak transcription	GM12878-XiMat	blood
9	chr3:143018400-143021400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:143018400-143021600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:143018400-143039400	Weak transcription	Primary B cells from cord blood	blood
12	chr3:143019000-143022600	Enhancers	Dnd41	blood
13	chr3:143019200-143021400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:143019200-143021600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:143019600-143026600	Enhancers	Fetal Lung	lung
16	chr3:143019800-143021000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:143020200-143021600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:143020200-143023200	Enhancers	K562	blood
19	chr3:143020400-143021400	Enhancers	HUVEC	blood vessel
20	chr3:143020400-143022600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:143020400-143022800	Enhancers	Spleen	Spleen
22	chr3:143020600-143022600	Enhancers	NHDF-Ad	bronchial
23	chr3:143020800-143021000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:143020800-143021400	Enhancers	HSMM	muscle
25	chr3:143020800-143021600	Enhancers	Lung	lung
26	chr3:143020800-143022000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:143020800-143022600	Enhancers	Placenta	Placenta
28	chr3:143020800-143022800	Enhancers	Fetal Muscle Leg	muscle
29	chr3:143020800-143023200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:143020800-143023400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:143021000-143021200	Enhancers	HSMMtube	muscle
32	chr3:143021000-143021400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:143021000-143021400	Enhancers	Osteobl	bone
34	chr3:143021000-143022000	Enhancers	NHLF	lung
35	chr3:143021000-143022200	Enhancers	HMEC	breast
36	chr3:143021000-143022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:143021000-143026600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:143021200-143021400	Flanking Active TSS	HSMMtube	muscle
39	chr3:143021200-143022400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:143021200-143022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:143021200-143029000	Weak transcription	Primary T cells from cord blood	blood
42	chr3:143021400-143021600	Flanking Active TSS	HSMM	muscle
43	chr3:143021400-143021600	Enhancers	HSMMtube	muscle
44	chr3:143021400-143021800	Enhancers	Fetal Kidney	kidney
45	chr3:143021400-143021800	Enhancers	Psoas Muscle	Psoas
46	chr3:143021400-143022000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:143021400-143022000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:143021400-143022000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:143021400-143022000	Enhancers	Esophagus	oesophagus
50	chr3:143021400-143022000	Flanking Active TSS	HUVEC	blood vessel

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