Variant report

Variant	nsv238021
Chromosome Location	chr3:143705285-143705607
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	chr3:143689459..143694662-chr3:143702114..143706390,7	K562	blood:
2	chr12:79202497..79203306-chr3:143705462..143706390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568738247	chr3:143705288-143705289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143694824	chr3:143705304-143705305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372410617	chr3:143705305-143705306	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550944207	chr3:143705316-143705317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs202007217	chr3:143705362-143705363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191917501	chr3:143705363-143705364	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548811585	chr3:143705393-143705394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567038228	chr3:143705423-143705424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs57053441	chr3:143705440-143705441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370367263	chr3:143705443-143705444	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113964543	chr3:143705450-143705451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9874033	chr3:143705483-143705484	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537487591	chr3:143705499-143705500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201166578	chr3:143705521-143705522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11293429	chr3:143705565-143705566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75476025	chr3:143705566-143705567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555396278	chr3:143705578-143705579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs57628048	chr3:143705583-143705584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367772426	chr3:143705584-143705585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143692600-143707800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:143692800-143714200	Weak transcription	Small Intestine	intestine
3	chr3:143693400-143706800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:143693400-143708400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:143693400-143708400	Weak transcription	Psoas Muscle	Psoas
6	chr3:143693400-143713800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:143693600-143711600	Weak transcription	Left Ventricle	heart
8	chr3:143694000-143708000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:143694200-143705600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:143694400-143708400	Weak transcription	Fetal Intestine Small	intestine
11	chr3:143694400-143718800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:143694400-143719400	Weak transcription	Hela-S3	cervix
13	chr3:143694800-143707200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:143695600-143710200	Weak transcription	Fetal Brain Male	brain
15	chr3:143695600-143716800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:143696400-143711600	Weak transcription	Fetal Brain Female	brain
17	chr3:143696400-143711800	Weak transcription	Fetal Intestine Large	intestine
18	chr3:143696800-143706600	Weak transcription	Ovary	ovary
19	chr3:143697000-143708000	Weak transcription	HUVEC	blood vessel
20	chr3:143697000-143708400	Weak transcription	K562	blood
21	chr3:143697000-143713400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:143697000-143722800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:143697000-143729200	Weak transcription	Aorta	Aorta
24	chr3:143697200-143708400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:143697200-143708400	Weak transcription	HMEC	breast
26	chr3:143697200-143708400	Weak transcription	NHEK	skin
27	chr3:143697200-143710200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:143697200-143712000	Weak transcription	Adipose Nuclei	Adipose
29	chr3:143697200-143723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:143697200-143727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:143697400-143708400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:143697800-143707800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:143697800-143707800	Weak transcription	Dnd41	blood
34	chr3:143697800-143708000	Weak transcription	Liver	Liver
35	chr3:143698000-143711000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:143698200-143708400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:143698400-143708400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:143698400-143708400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:143698400-143721200	Weak transcription	Fetal Kidney	kidney
40	chr3:143698600-143707800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:143698800-143706200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:143698800-143708400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:143699000-143707800	Weak transcription	Fetal Lung	lung
44	chr3:143699000-143708400	Weak transcription	NHLF	lung
45	chr3:143699000-143717000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:143699200-143737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:143699400-143706400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:143699400-143712200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:143699400-143714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:143700400-143708400	Weak transcription	H1 Cell Line	embryonic stem cell

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