Variant report

Variant	esv3329447
Chromosome Location	chr3:112954312-112956510
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	chr3:112950520..112952808-chr3:112954208..112956518,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563447633	chr3:112954316-112954317	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142506859	chr3:112954317-112954318	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72942474	chr3:112954328-112954329	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555652606	chr3:112954448-112954449	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567485367	chr3:112954475-112954476	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567259177	chr3:112954482-112954483	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190516769	chr3:112954537-112954538	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76140460	chr3:112954567-112954568	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538023935	chr3:112954586-112954587	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146792011	chr3:112954588-112954589	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556442612	chr3:112954679-112954680	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181809044	chr3:112954690-112954691	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185947173	chr3:112954699-112954700	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575785374	chr3:112954723-112954724	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139330774	chr3:112954756-112954757	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555279485	chr3:112954765-112954766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573548188	chr3:112954791-112954792	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540942784	chr3:112954815-112954816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559258301	chr3:112954883-112954884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577566485	chr3:112954890-112954891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143342181	chr3:112954894-112954895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563282931	chr3:112954909-112954910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150401878	chr3:112954917-112954918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548796341	chr3:112954951-112954952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560770971	chr3:112954970-112954971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138174819	chr3:112954973-112954974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188806496	chr3:112955002-112955003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201338236	chr3:112955049-112955050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77742810	chr3:112955070-112955071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372664979	chr3:112955076-112955077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112776005	chr3:112955113-112955114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28525407	chr3:112955115-112955116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28582074	chr3:112955117-112955118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376675331	chr3:112955130-112955131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186168895	chr3:112955158-112955159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536764905	chr3:112955206-112955207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376293274	chr3:112955218-112955219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376521879	chr3:112955220-112955221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116425520	chr3:112955254-112955255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191419002	chr3:112955276-112955277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181041501	chr3:112955313-112955314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534445438	chr3:112955328-112955329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559030878	chr3:112955371-112955372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566352635	chr3:112955428-112955429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6783739	chr3:112955448-112955449	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144261325	chr3:112955550-112955551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528826712	chr3:112955551-112955552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556998330	chr3:112955554-112955555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186035115	chr3:112955568-112955569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542330538	chr3:112955576-112955577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Neurodevelopmental disorder	22521361	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
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112937000-112954800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:112943600-112960600	Weak transcription	Fetal Thymus	thymus
4	chr3:112947000-112955600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:112949800-112954600	Enhancers	NHEK	skin
6	chr3:112950200-112954400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:112950400-112954400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:112951000-112954400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:112951000-112958800	Weak transcription	Fetal Kidney	kidney
10	chr3:112951200-112954600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:112951200-112958800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:112951200-112959000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:112951200-112967000	Weak transcription	Colonic Mucosa	Colon
14	chr3:112951600-112960200	Weak transcription	NHLF	lung
15	chr3:112951800-112954600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:112952000-112954600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:112952200-112954800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:112952400-112954600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:112952400-112959000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:112953000-112959800	Weak transcription	Fetal Brain Female	brain
21	chr3:112953200-112954400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:112953200-112954400	Enhancers	Fetal Lung	lung
23	chr3:112953200-112954800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:112953400-112954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:112953400-112954400	Enhancers	HSMM	muscle
26	chr3:112953400-112954600	Enhancers	HSMMtube	muscle
27	chr3:112953800-112954600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr3:112953800-112954600	Enhancers	Fetal Stomach	stomach
29	chr3:112953800-112954600	Enhancers	Rectal Smooth Muscle	rectum
30	chr3:112953800-112955600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:112953800-112956200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:112953800-112958400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:112953800-112958400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:112953800-112959000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:112953800-112959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:112953800-112959600	Weak transcription	Esophagus	oesophagus
37	chr3:112953800-112959600	Weak transcription	Fetal Brain Male	brain
38	chr3:112953800-112960600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:112953800-112965600	Weak transcription	Right Atrium	heart
40	chr3:112954000-112954400	Enhancers	Colon Smooth Muscle	Colon
41	chr3:112954000-112956000	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:112954000-112956200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:112954000-112957600	Weak transcription	Ovary	ovary
44	chr3:112954000-112958200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:112954000-112958400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:112954000-112958400	Weak transcription	NHDF-Ad	bronchial
47	chr3:112954000-112959000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:112954000-112959600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr3:112954200-112954400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:112954200-112955000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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