Variant report

Variant	esv3360224
Chromosome Location	chr3:133103962-133107460
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	chr3:133105415..133106537-chr3:133142074..133142947,6	MCF-7	breast:
2	chr3:133105226..133106115-chr3:133142183..133142702,2	MCF-7	breast:
3	chr3:132445194..132445751-chr3:133103395..133104219,2	MCF-7	breast:
4	chr3:133100753..133103511-chr3:133104610..133107430,2	K562	blood:
5	chr3:133103166..133105237-chr3:133107966..133110867,2	MCF-7	breast:
6	chr3:133078806..133080710-chr3:133106761..133108268,2	K562	blood:
7	chr3:132449516..132450612-chr3:133102788..133103978,6	MCF-7	breast:
8	chr3:133103700..133105206-chr3:133145260..133147537,2	MCF-7	breast:

No data

Extended variants
information (count: 131 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148481245	chr3:133104002-133104003	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs185293259	chr3:133104003-133104004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs191516766	chr3:133104008-133104009	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs142645987	chr3:133104073-133104074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs556884845	chr3:133104092-133104093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs576806248	chr3:133104093-133104094	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs151012963	chr3:133104107-133104108	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs559336352	chr3:133104131-133104132	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs148983191	chr3:133104171-133104172	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs528555191	chr3:133104177-133104178	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs115432328	chr3:133104178-133104179	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs562267283	chr3:133104250-133104251	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs112852341	chr3:133104321-133104322	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs551291744	chr3:133104323-133104324	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs571197738	chr3:133104364-133104365	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs533685126	chr3:133104427-133104428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547739452	chr3:133104437-133104438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182440835	chr3:133104455-133104456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187772429	chr3:133104471-133104472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554410667	chr3:133104491-133104492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115866178	chr3:133104512-133104513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561600666	chr3:133104540-133104541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536876791	chr3:133104600-133104601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34718310	chr3:133104609-133104610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1197304	chr3:133104631-133104632	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373974730	chr3:133104695-133104696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576691374	chr3:133104698-133104699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544016252	chr3:133104706-133104707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539366802	chr3:133104712-133104713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77010412	chr3:133104748-133104749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573165923	chr3:133104781-133104782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75759819	chr3:133104825-133104826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562085880	chr3:133104850-133104851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371264581	chr3:133104851-133104852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60275806	chr3:133104919-133104920	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370277023	chr3:133104965-133104966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564693231	chr3:133105037-133105038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567875422	chr3:133105047-133105048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371523125	chr3:133105101-133105102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532242268	chr3:133105107-133105108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78490638	chr3:133105137-133105138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75403245	chr3:133105209-133105210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528124923	chr3:133105245-133105246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192504211	chr3:133105252-133105253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568099588	chr3:133105258-133105259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536763481	chr3:133105328-133105329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114098779	chr3:133105373-133105374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570313710	chr3:133105462-133105463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141267342	chr3:133105463-133105464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553031895	chr3:133105464-133105465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133094000-133109000	Weak transcription	HSMM	muscle
2	chr3:133094800-133110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:133096000-133107800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:133099000-133117000	Weak transcription	Placenta	Placenta
5	chr3:133099600-133122600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:133100800-133111600	Weak transcription	HSMMtube	muscle
7	chr3:133101600-133104000	Enhancers	HMEC	breast
8	chr3:133102000-133104200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:133102000-133104200	Enhancers	NHEK	skin
10	chr3:133102400-133112400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:133102800-133104000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:133103000-133104000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:133103200-133104000	Enhancers	Brain Substantia Nigra	brain
14	chr3:133103400-133104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:133103400-133104400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr3:133103400-133109000	Weak transcription	Fetal Stomach	stomach
17	chr3:133103400-133111600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:133103400-133112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:133103400-133115200	Weak transcription	Lung	lung
20	chr3:133103400-133123200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:133103400-133123600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:133103600-133104200	Enhancers	Brain Germinal Matrix	brain
23	chr3:133103800-133104400	Weak transcription	Fetal Brain Female	brain
24	chr3:133103800-133105800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:133103800-133106400	Weak transcription	Fetal Thymus	thymus
26	chr3:133103800-133107800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:133103800-133108600	Weak transcription	Fetal Lung	lung
28	chr3:133103800-133109000	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:133103800-133109200	Weak transcription	Brain Angular Gyrus	brain
30	chr3:133103800-133109200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:133103800-133109400	Weak transcription	Fetal Brain Male	brain
32	chr3:133103800-133109600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:133103800-133109800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:133103800-133112000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:133103800-133115800	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:133103800-133118600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:133103800-133123800	Weak transcription	Brain Anterior Caudate	brain
38	chr3:133104000-133105600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:133104000-133112000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:133104000-133122200	Weak transcription	Brain Substantia Nigra	brain
41	chr3:133104200-133104400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:133104200-133109000	Weak transcription	Brain Germinal Matrix	brain
43	chr3:133104400-133112000	Strong transcription	Fetal Brain Female	brain
44	chr3:133104400-133131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:133105600-133108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr3:133105800-133106400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:133106400-133106600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr3:133106400-133107200	Enhancers	Fetal Thymus	thymus
49	chr3:133106400-133108800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:133106600-133107000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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