Variant report

Variant	nsv591368
Chromosome Location	chr3:119351398-119353844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119349377..119351910-chr3:119353160..119355843,2	K562	blood:
2	chr19:27732780..27734287-chr3:119350472..119351972,2	MCF-7	breast:
3	chr3:119297207..119300144-chr3:119352679..119354693,2	MCF-7	breast:
4	chr3:119326194..119327898-chr3:119353631..119355784,2	K562	blood:
5	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144843	chromatin interactions
ENSG00000144837	chromatin interactions
ENSG00000242052	chromatin interactions
ENSG00000272967	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16830079	chr3:119351398-119351399	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535257158	chr3:119351404-119351405	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553280963	chr3:119351405-119351406	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150254168	chr3:119351455-119351456	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545124989	chr3:119351468-119351469	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138875270	chr3:119351469-119351470	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575197517	chr3:119351480-119351481	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542532633	chr3:119351490-119351491	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560874175	chr3:119351516-119351517	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191276517	chr3:119351597-119351598	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183998602	chr3:119351614-119351615	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564886009	chr3:119351620-119351621	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532245840	chr3:119351621-119351622	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540640955	chr3:119351633-119351634	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74656582	chr3:119351699-119351700	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568893112	chr3:119351754-119351755	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188389679	chr3:119351829-119351830	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548195004	chr3:119351858-119351859	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7613825	chr3:119351915-119351916	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs4687868	chr3:119351937-119351938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113894771	chr3:119351940-119351941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553531740	chr3:119351945-119351946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571706642	chr3:119351951-119351952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539135347	chr3:119352000-119352001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557007310	chr3:119352011-119352012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554248510	chr3:119352083-119352084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147050686	chr3:119352125-119352126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554531740	chr3:119352160-119352161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573097558	chr3:119352188-119352189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181592000	chr3:119352212-119352213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185059535	chr3:119352219-119352220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369154457	chr3:119352234-119352235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576470172	chr3:119352262-119352263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544400640	chr3:119352339-119352340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562609821	chr3:119352340-119352341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62979964	chr3:119352349-119352350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141676861	chr3:119352358-119352359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201434494	chr3:119352363-119352364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531270648	chr3:119352373-119352374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529807155	chr3:119352378-119352379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529057323	chr3:119352450-119352451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549196625	chr3:119352460-119352461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569221108	chr3:119352467-119352468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2688634	chr3:119352504-119352505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs558139752	chr3:119352525-119352526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566296145	chr3:119352623-119352624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17281758	chr3:119352665-119352666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111411620	chr3:119352669-119352670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9837943	chr3:119352670-119352671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574081281	chr3:119352753-119352754	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119341400-119364600	Weak transcription	Liver	Liver
3	chr3:119343800-119351400	Enhancers	Psoas Muscle	Psoas
4	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:119346000-119351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:119346800-119352600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:119347800-119356400	Weak transcription	Fetal Thymus	thymus
10	chr3:119349000-119351400	Enhancers	K562	blood
11	chr3:119349400-119351600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
13	chr3:119349600-119354400	Weak transcription	Fetal Stomach	stomach
14	chr3:119349600-119355000	Weak transcription	Spleen	Spleen
15	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr3:119349800-119351800	Weak transcription	Right Ventricle	heart
17	chr3:119349800-119353800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:119349800-119354400	Weak transcription	Right Atrium	heart
19	chr3:119349800-119355000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:119349800-119356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:119349800-119356400	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:119350000-119352000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr3:119350000-119352200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:119350000-119354400	Weak transcription	Lung	lung
27	chr3:119350000-119354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:119350000-119354600	Weak transcription	GM12878-XiMat	blood
29	chr3:119350000-119354600	Weak transcription	HUVEC	blood vessel
30	chr3:119350000-119354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:119350000-119354800	Weak transcription	NHDF-Ad	bronchial
32	chr3:119350000-119355000	Weak transcription	NH-A	brain
33	chr3:119350000-119355000	Weak transcription	NHLF	lung
34	chr3:119350000-119355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:119350400-119354800	Weak transcription	HSMM	muscle
36	chr3:119350400-119355000	Weak transcription	HSMMtube	muscle
37	chr3:119350600-119352000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:119350600-119354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:119350600-119355000	Weak transcription	Osteobl	bone
40	chr3:119350800-119351400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr3:119350800-119351400	Enhancers	Left Ventricle	heart
42	chr3:119350800-119351800	Enhancers	Fetal Heart	heart
43	chr3:119350800-119352600	Enhancers	Ovary	ovary
44	chr3:119350800-119354000	Weak transcription	Placenta	Placenta
45	chr3:119351000-119351400	Enhancers	Pancreas	Pancrea
46	chr3:119351000-119351600	Enhancers	Adipose Nuclei	Adipose
47	chr3:119351000-119352000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:119351000-119354800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:119351000-119355000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:119351000-119355000	Weak transcription	Muscle Satellite Cultured Cells	--

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