Variant report

Variant	nsv10333
Chromosome Location	chr3:142913781-142919105
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142917669..142921522-chr3:142924910..142927664,3	K562	blood:
2	chr3:142908825..142914026-chr3:142914356..142919906,7	K562	blood:
3	chr3:142907861..142909717-chr3:142911559..142913814,2	K562	blood:
4	chr3:142914308..142916627-chr3:142918947..142921480,2	K562	blood:
5	chr3:142918300..142920057-chr3:142921412..142923080,2	K562	blood:
6	chr3:142917101..142918800-chr3:142923414..142925582,2	K562	blood:
7	chr3:142918300..142920442-chr3:142921412..142923086,3	K562	blood:
8	chr3:142908825..142914026-chr3:142914356..142919906,7	K562	blood:
9	chr3:142918145..142921332-chr3:143025862..143029822,3	K562	blood:
10	chr3:142914308..142916627-chr3:142918947..142921480,2	K562	blood:

No data

Extended variants
information (count: 156 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112065538	chr3:142913844-142913845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534124697	chr3:142913845-142913846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558560347	chr3:142913848-142913849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576670908	chr3:142913857-142913858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115647700	chr3:142913869-142913870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562249347	chr3:142913889-142913890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189865073	chr3:142913906-142913907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541481000	chr3:142914020-142914021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371507998	chr3:142914051-142914052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118112456	chr3:142914065-142914066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182038893	chr3:142914109-142914110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564766703	chr3:142914116-142914117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186359290	chr3:142914128-142914129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550358642	chr3:142914134-142914135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568585883	chr3:142914160-142914161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535917478	chr3:142914191-142914192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547552511	chr3:142914250-142914251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372969885	chr3:142914289-142914290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566103042	chr3:142914302-142914303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188454936	chr3:142914303-142914304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35408327	chr3:142914305-142914306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72429047	chr3:142914306-142914307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397821156	chr3:142914321-142914322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558815551	chr3:142914325-142914326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180838659	chr3:142914371-142914372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537664231	chr3:142914393-142914394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11447957	chr3:142914450-142914451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397823711	chr3:142914459-142914460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201316806	chr3:142914460-142914461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202082762	chr3:142914462-142914463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529500201	chr3:142914463-142914464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6440150	chr3:142914467-142914468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6440151	chr3:142914498-142914499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185141761	chr3:142914540-142914541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6765181	chr3:142914571-142914572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551645253	chr3:142914587-142914588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7612554	chr3:142914596-142914597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191429580	chr3:142914605-142914606	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532011065	chr3:142914612-142914613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs117717263	chr3:142914659-142914660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182850138	chr3:142914662-142914663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529451287	chr3:142914663-142914664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552346643	chr3:142914744-142914745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs7624271	chr3:142914752-142914753	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566040669	chr3:142914823-142914824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539827106	chr3:142914827-142914828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6440152	chr3:142914841-142914842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187028417	chr3:142914858-142914859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537775590	chr3:142914891-142914892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556023943	chr3:142914903-142914904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142911400-142915800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:142911600-142914600	Weak transcription	Aorta	Aorta
3	chr3:142914600-142914800	ZNF genes & repeats	Aorta	Aorta
4	chr3:142915800-142916000	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr3:142917000-142917200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:142917200-142918800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:142918200-142922400	Enhancers	Dnd41	blood
8	chr3:142918800-142919000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:142918800-142919200	Enhancers	NHDF-Ad	bronchial
10	chr3:142918800-142919400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:142918800-142919400	Enhancers	Fetal Thymus	thymus
12	chr3:142918800-142919400	Enhancers	HSMMtube	muscle
13	chr3:142918800-142919800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:142919000-142919200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:142919000-142919200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:142919000-142919200	Enhancers	Fetal Kidney	kidney
17	chr3:142919000-142919200	Enhancers	Osteobl	bone
18	chr3:142919000-142919400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:142919000-142919400	Enhancers	Fetal Lung	lung
20	chr3:142919000-142919400	Enhancers	Thymus	Thymus

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