Variant report

Variant	nsv591364
Chromosome Location	chr3:119348130-119353995
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119349377..119351910-chr3:119353160..119355843,2	K562	blood:
2	chr3:119297207..119300144-chr3:119352679..119354693,2	MCF-7	breast:
3	chr19:27732780..27734287-chr3:119350472..119351972,2	MCF-7	breast:
4	chr3:119265125..119267383-chr3:119346773..119348638,2	K562	blood:
5	chr3:119326194..119327898-chr3:119353631..119355784,2	K562	blood:
6	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:
7	chr3:119297851..119299731-chr3:119347893..119350770,2	MCF-7	breast:
8	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:
9	chr3:119298163..119299885-chr3:119348210..119351201,3	MCF-7	breast:

No data

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

Extended variants
information (count: 253 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17281751	chr3:119348130-119348131	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538327550	chr3:119348135-119348136	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555692249	chr3:119348140-119348141	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181377952	chr3:119348154-119348155	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568415169	chr3:119348166-119348167	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200053174	chr3:119348200-119348201	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs367639135	chr3:119348208-119348209	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371324639	chr3:119348214-119348215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200377830	chr3:119348231-119348232	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369168732	chr3:119348256-119348257	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200470239	chr3:119348275-119348276	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146515048	chr3:119348277-119348278	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539291441	chr3:119348283-119348284	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375163480	chr3:119348295-119348296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369945117	chr3:119348296-119348297	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs72957048	chr3:119348298-119348299	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs3054091	chr3:119348345-119348346	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs5852213	chr3:119348346-119348347	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201339395	chr3:119348349-119348350	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs199968456	chr3:119348350-119348351	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200981485	chr3:119348351-119348352	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs58598187	chr3:119348361-119348362	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191847692	chr3:119348408-119348409	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141460598	chr3:119348425-119348426	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561355681	chr3:119348467-119348468	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575541417	chr3:119348513-119348514	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs1804918	chr3:119348518-119348519	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1804917	chr3:119348542-119348543	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573268003	chr3:119348585-119348586	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12023	chr3:119348586-119348587	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs560439423	chr3:119348598-119348599	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs115314678	chr3:119348606-119348607	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552535819	chr3:119348638-119348639	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186088010	chr3:119348662-119348663	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189805680	chr3:119348676-119348677	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564750503	chr3:119348700-119348701	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs578259020	chr3:119348702-119348703	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540798103	chr3:119348725-119348726	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550255124	chr3:119348731-119348732	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs16830076	chr3:119348751-119348752	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs182835242	chr3:119348774-119348775	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs558472867	chr3:119348777-119348778	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186987606	chr3:119348804-119348805	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539720543	chr3:119348825-119348826	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs578187893	chr3:119348902-119348903	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79285757	chr3:119348931-119348932	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147462174	chr3:119348963-119348964	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs547986339	chr3:119349038-119349039	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553959660	chr3:119349095-119349096	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555017668	chr3:119349126-119349127	Enhancers Weak transcription Flanking Active TSS	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:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119322200-119349200	Weak transcription	Gastric	stomach
2	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:119341400-119364600	Weak transcription	Liver	Liver
4	chr3:119343200-119349200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:119343800-119349200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:119343800-119351400	Enhancers	Psoas Muscle	Psoas
7	chr3:119344200-119349600	Enhancers	Spleen	Spleen
8	chr3:119344400-119348400	Enhancers	Left Ventricle	heart
9	chr3:119344400-119351000	Weak transcription	Pancreas	Pancrea
10	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:119344800-119350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:119345000-119348200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:119345000-119349800	Enhancers	Right Ventricle	heart
14	chr3:119345000-119350000	Enhancers	Adipose Nuclei	Adipose
15	chr3:119345200-119348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:119345200-119349400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:119345200-119350800	Weak transcription	Fetal Heart	heart
18	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:119345400-119348400	Enhancers	Primary B cells from peripheral blood	blood
20	chr3:119345400-119348400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:119345400-119349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:119345800-119348200	Enhancers	Primary B cells from cord blood	blood
23	chr3:119345800-119349200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:119346000-119351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:119346200-119349800	Enhancers	Right Atrium	heart
27	chr3:119346200-119351000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:119346400-119348200	Enhancers	Ovary	ovary
29	chr3:119346400-119348200	Flanking Active TSS	GM12878-XiMat	blood
30	chr3:119346400-119350800	Enhancers	Placenta	Placenta
31	chr3:119346400-119351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:119346600-119349200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:119346600-119349400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr3:119346600-119350400	Enhancers	HSMMtube	muscle
35	chr3:119346800-119348400	Enhancers	Aorta	Aorta
36	chr3:119346800-119350600	Enhancers	Osteobl	bone
37	chr3:119346800-119352600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:119347000-119349000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:119347000-119349200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:119347200-119348800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:119347200-119349000	Weak transcription	HUVEC	blood vessel
42	chr3:119347400-119348800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:119347600-119349000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr3:119347600-119349200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr3:119347600-119349200	Weak transcription	Lung	lung
46	chr3:119347600-119350400	Enhancers	HSMM	muscle
47	chr3:119347800-119349000	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:119347800-119349000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:119347800-119349200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:119347800-119350000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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