Variant report

Variant	esv1795670
Chromosome Location	chr3:119347400-119353995
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	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:
2	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:
3	chr3:119349377..119351910-chr3:119353160..119355843,2	K562	blood:
4	chr3:119297851..119299731-chr3:119347893..119350770,2	MCF-7	breast:
5	chr3:119297207..119300144-chr3:119352679..119354693,2	MCF-7	breast:
6	chr3:119298163..119299885-chr3:119348210..119351201,3	MCF-7	breast:
7	chr3:119265125..119267383-chr3:119346773..119348638,2	K562	blood:
8	chr3:119326194..119327898-chr3:119353631..119355784,2	K562	blood:
9	chr19:27732780..27734287-chr3:119350472..119351972,2	MCF-7	breast:

No data

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

Extended variants
information (count: 291 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:291 , 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	rs2280580	chr3:119347400-119347401	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564115886	chr3:119347432-119347433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531182282	chr3:119347433-119347434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549730280	chr3:119347478-119347479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569247768	chr3:119347479-119347480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201546738	chr3:119347499-119347500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs114385312	chr3:119347508-119347509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566677139	chr3:119347515-119347516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs534312116	chr3:119347523-119347524	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558749657	chr3:119347536-119347537	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374371266	chr3:119347542-119347543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145850687	chr3:119347545-119347546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139759007	chr3:119347549-119347550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs41271395	chr3:119347560-119347561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145577568	chr3:119347561-119347562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371904306	chr3:119347602-119347603	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs56163046	chr3:119347611-119347612	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs115172544	chr3:119347623-119347624	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377259631	chr3:119347624-119347625	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374852182	chr3:119347626-119347627	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572103331	chr3:119347681-119347682	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs367942374	chr3:119347684-119347685	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs375463848	chr3:119347702-119347703	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs200815527	chr3:119347726-119347727	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149625565	chr3:119347728-119347729	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372722871	chr3:119347738-119347739	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143340670	chr3:119347768-119347769	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556034507	chr3:119347839-119347840	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189379514	chr3:119347861-119347862	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567336700	chr3:119347924-119347925	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572967280	chr3:119347927-119347928	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561345021	chr3:119347954-119347955	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181315548	chr3:119347980-119347981	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185442832	chr3:119348025-119348026	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189127316	chr3:119348033-119348034	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs35170061	chr3:119348040-119348041	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148332469	chr3:119348045-119348046	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552714131	chr3:119348082-119348083	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs17281751	chr3:119348130-119348131	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538327550	chr3:119348135-119348136	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs555692249	chr3:119348140-119348141	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs181377952	chr3:119348154-119348155	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568415169	chr3:119348166-119348167	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200053174	chr3:119348200-119348201	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367639135	chr3:119348208-119348209	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371324639	chr3:119348214-119348215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200377830	chr3:119348231-119348232	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs369168732	chr3:119348256-119348257	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs200470239	chr3:119348275-119348276	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146515048	chr3:119348277-119348278	Weak transcription Enhancers 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:215 , 50 per page) page: 1 2 3 4 5

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	chr3:119344000-119347600	Enhancers	Lung	lung
8	chr3:119344200-119349600	Enhancers	Spleen	Spleen
9	chr3:119344400-119348400	Enhancers	Left Ventricle	heart
10	chr3:119344400-119351000	Weak transcription	Pancreas	Pancrea
11	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:119344800-119350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:119345000-119348200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:119345000-119349800	Enhancers	Right Ventricle	heart
15	chr3:119345000-119350000	Enhancers	Adipose Nuclei	Adipose
16	chr3:119345200-119347800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr3:119345200-119348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:119345200-119349400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:119345200-119350800	Weak transcription	Fetal Heart	heart
20	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:119345400-119347800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:119345400-119347800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:119345400-119348000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:119345400-119348400	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:119345400-119348400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:119345400-119349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:119345600-119347800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:119345800-119347400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:119345800-119347600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr3:119345800-119348200	Enhancers	Primary B cells from cord blood	blood
31	chr3:119345800-119349200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:119346000-119347400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:119346000-119351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:119346200-119349800	Enhancers	Right Atrium	heart
36	chr3:119346200-119351000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:119346400-119347600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr3:119346400-119348200	Enhancers	Ovary	ovary
39	chr3:119346400-119348200	Flanking Active TSS	GM12878-XiMat	blood
40	chr3:119346400-119350800	Enhancers	Placenta	Placenta
41	chr3:119346400-119351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:119346600-119349200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:119346600-119349400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr3:119346600-119350400	Enhancers	HSMMtube	muscle
45	chr3:119346800-119347600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:119346800-119348400	Enhancers	Aorta	Aorta
47	chr3:119346800-119350600	Enhancers	Osteobl	bone
48	chr3:119346800-119352600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr3:119347000-119347800	Enhancers	Fetal Thymus	thymus
50	chr3:119347000-119349000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links