Variant report

Variant	nsv822266
Chromosome Location	chr3:140314161-140315185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140314929..140317518-chr3:140320988..140323953,2	K562	blood:
2	chr3:140313745..140316717-chr3:140320885..140322798,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561781866	chr3:140314215-140314216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185834931	chr3:140314270-140314271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541040024	chr3:140314294-140314295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113666148	chr3:140314303-140314304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547409327	chr3:140314365-140314366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533228220	chr3:140314402-140314403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62268270	chr3:140314463-140314464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536137873	chr3:140314466-140314467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552005331	chr3:140314482-140314483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563868176	chr3:140314495-140314496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531272320	chr3:140314502-140314503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190171054	chr3:140314591-140314592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71314560	chr3:140314682-140314683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181929651	chr3:140314750-140314751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372272584	chr3:140314751-140314752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369568807	chr3:140314764-140314765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187012651	chr3:140314811-140314812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs696575	chr3:140314818-140314819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565772222	chr3:140314866-140314867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192348985	chr3:140314890-140314891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78198487	chr3:140314892-140314893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575817278	chr3:140314907-140314908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536978003	chr3:140314908-140314909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555265635	chr3:140314914-140314915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182154078	chr3:140314922-140314923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146339172	chr3:140314983-140314984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532992097	chr3:140314987-140314988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13315403	chr3:140315005-140315006	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185416603	chr3:140315016-140315017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138282821	chr3:140315147-140315148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Cancer	21129771	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
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	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
Lung cancer	16740712	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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140306000-140318200	Weak transcription	HSMM	muscle
2	chr3:140307800-140314400	Weak transcription	Ovary	ovary
3	chr3:140310600-140320800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:140310600-140325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:140312000-140314200	Weak transcription	Left Ventricle	heart
6	chr3:140312600-140315400	Enhancers	K562	blood
7	chr3:140313600-140314800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:140313600-140316000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:140313600-140316600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:140314000-140314400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:140314000-140314600	Enhancers	Right Atrium	heart
12	chr3:140314200-140314400	Enhancers	Left Ventricle	heart
13	chr3:140314200-140315400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:140314400-140314600	Enhancers	Ovary	ovary
15	chr3:140314400-140315200	Weak transcription	Left Ventricle	heart
16	chr3:140314600-140315000	Weak transcription	Ovary	ovary
17	chr3:140314600-140315200	Weak transcription	Right Atrium	heart
18	chr3:140315000-140316000	Enhancers	Ovary	ovary

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