Variant report

Variant	esv3489267
Chromosome Location	chr3:119657212-119658447
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	chr3:119655041..119657977-chr3:119815420..119818415,2	K562	blood:
2	chr3:119651638..119653513-chr3:119656537..119658183,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143506560	chr3:119657251-119657252	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116682457	chr3:119657255-119657256	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs66650215	chr3:119657271-119657272	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561820749	chr3:119657291-119657292	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373021102	chr3:119657309-119657310	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527492119	chr3:119657330-119657331	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541262941	chr3:119657348-119657349	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs149133584	chr3:119657360-119657361	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376300725	chr3:119657437-119657438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147146817	chr3:119657447-119657448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62264734	chr3:119657519-119657520	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs59890455	chr3:119657610-119657611	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139459840	chr3:119657619-119657620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549060823	chr3:119657623-119657624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566203249	chr3:119657651-119657652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374879067	chr3:119657700-119657701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75501352	chr3:119657752-119657753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192526502	chr3:119657771-119657772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183039673	chr3:119657804-119657805	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372143845	chr3:119657829-119657830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575710557	chr3:119657836-119657837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60945027	chr3:119657837-119657838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536789762	chr3:119657927-119657928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149862075	chr3:119657930-119657931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370898732	chr3:119657931-119657932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145844073	chr3:119658022-119658023	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187327248	chr3:119658027-119658028	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555494108	chr3:119658078-119658079	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148561299	chr3:119658108-119658109	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144374997	chr3:119658117-119658118	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192634874	chr3:119658166-119658167	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113066112	chr3:119658207-119658208	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560843421	chr3:119658255-119658256	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146583015	chr3:119658291-119658292	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77733145	chr3:119658323-119658324	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73854746	chr3:119658329-119658330	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119597600-119659000	Weak transcription	Gastric	stomach
3	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
5	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
6	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
7	chr3:119628200-119663200	Weak transcription	Right Atrium	heart
8	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
9	chr3:119630800-119663200	Weak transcription	Esophagus	oesophagus
10	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
11	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:119631400-119660800	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:119635000-119665400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:119635000-119667000	Weak transcription	Placenta	Placenta
15	chr3:119635400-119664600	Weak transcription	HMEC	breast
16	chr3:119636400-119667200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:119640000-119663800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:119640600-119664400	Weak transcription	HSMM	muscle
19	chr3:119640600-119665000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:119640600-119672400	Weak transcription	Osteobl	bone
21	chr3:119640800-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:119640800-119665400	Weak transcription	Fetal Thymus	thymus
23	chr3:119641000-119661800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:119641000-119662600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:119641000-119663800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:119641000-119681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:119641000-119681600	Weak transcription	Fetal Intestine Small	intestine
28	chr3:119641000-119694400	Weak transcription	Fetal Lung	lung
29	chr3:119641200-119664400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:119641200-119666400	Weak transcription	HepG2	liver
31	chr3:119641200-119681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:119642200-119665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:119644400-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:119645400-119669600	Weak transcription	Psoas Muscle	Psoas
35	chr3:119650200-119660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:119650200-119660800	Weak transcription	A549	lung
37	chr3:119650200-119669800	Weak transcription	Liver	Liver
38	chr3:119650400-119669600	Weak transcription	Left Ventricle	heart
39	chr3:119653400-119661600	Weak transcription	NHDF-Ad	bronchial
40	chr3:119653600-119669600	Weak transcription	Ovary	ovary
41	chr3:119654400-119657400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr3:119654800-119657600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:119655200-119658000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:119655600-119657400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:119655600-119658200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:119655800-119657600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr3:119656000-119658200	Enhancers	Dnd41	blood
48	chr3:119656200-119657600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:119656200-119658800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr3:119656200-119663400	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links