Variant report

Variant	esv3463490
Chromosome Location	chr3:119350258-119354322
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 181 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs10644342	chr3:119350272-119350273	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs544072672	chr3:119350275-119350276	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs377303698	chr3:119350286-119350287	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs538423695	chr3:119350314-119350315	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs2692619	chr3:119350324-119350325	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529412380	chr3:119350331-119350332	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs541474633	chr3:119350346-119350347	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs202063369	chr3:119350383-119350384	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs558255612	chr3:119350451-119350452	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs116110088	chr3:119350550-119350551	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs549945338	chr3:119350558-119350559	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs189131751	chr3:119350581-119350582	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs578000945	chr3:119350582-119350583	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs148641435	chr3:119350586-119350587	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs200267201	chr3:119350606-119350607	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs531008267	chr3:119350608-119350609	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs77788266	chr3:119350620-119350621	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs77229008	chr3:119350623-119350624	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs77909041	chr3:119350635-119350636	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs567075868	chr3:119350638-119350639	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs578243702	chr3:119350680-119350681	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs534418508	chr3:119350705-119350706	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs11925762	chr3:119350753-119350754	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554364744	chr3:119350796-119350797	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs571174812	chr3:119350800-119350801	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs538653946	chr3:119350833-119350834	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs556675633	chr3:119350834-119350835	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs140211753	chr3:119350839-119350840	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs11918155	chr3:119350843-119350844	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12488460	chr3:119350844-119350845	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs574250715	chr3:119350874-119350875	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541189228	chr3:119350907-119350908	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559826212	chr3:119350908-119350909	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs578023605	chr3:119350911-119350912	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs60718763	chr3:119350966-119350967	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs77628449	chr3:119350984-119350985	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs193131215	chr3:119350988-119350989	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530663793	chr3:119351025-119351026	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs563338194	chr3:119351047-119351048	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs34203615	chr3:119351053-119351054	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs397875162	chr3:119351060-119351061	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs530717343	chr3:119351113-119351114	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs548825057	chr3:119351142-119351143	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs560760791	chr3:119351214-119351215	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528258918	chr3:119351217-119351218	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571874164	chr3:119351227-119351228	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75054908	chr3:119351236-119351237	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185634730	chr3:119351242-119351243	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188321873	chr3:119351254-119351255	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538353893	chr3:119351277-119351278	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 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:112 , 50 per page) page: 1 2 3

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	chr3:119344400-119351000	Weak transcription	Pancreas	Pancrea
5	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:119345200-119350800	Weak transcription	Fetal Heart	heart
7	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:119346000-119351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:119346200-119351000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:119346400-119350800	Enhancers	Placenta	Placenta
12	chr3:119346400-119351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:119346600-119350400	Enhancers	HSMMtube	muscle
14	chr3:119346800-119350600	Enhancers	Osteobl	bone
15	chr3:119346800-119352600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:119347600-119350400	Enhancers	HSMM	muscle
17	chr3:119347800-119356400	Weak transcription	Fetal Thymus	thymus
18	chr3:119349000-119350600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:119349000-119351200	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:119349000-119351400	Enhancers	K562	blood
21	chr3:119349200-119351000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:119349400-119350800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:119349400-119351200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:119349400-119351600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
26	chr3:119349600-119354400	Weak transcription	Fetal Stomach	stomach
27	chr3:119349600-119355000	Weak transcription	Spleen	Spleen
28	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:119349800-119350600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:119349800-119350800	Weak transcription	Left Ventricle	heart
31	chr3:119349800-119350800	Weak transcription	Ovary	ovary
32	chr3:119349800-119351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:119349800-119351000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:119349800-119351200	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:119349800-119351800	Weak transcription	Right Ventricle	heart
36	chr3:119349800-119353800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:119349800-119354400	Weak transcription	Right Atrium	heart
38	chr3:119349800-119355000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:119349800-119356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:119349800-119356400	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:119350000-119351000	Weak transcription	Adipose Nuclei	Adipose
44	chr3:119350000-119352000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:119350000-119352200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr3:119350000-119354400	Weak transcription	Lung	lung
47	chr3:119350000-119354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:119350000-119354600	Weak transcription	GM12878-XiMat	blood
49	chr3:119350000-119354600	Weak transcription	HUVEC	blood vessel
50	chr3:119350000-119354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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