Variant report

Variant	esv3383134
Chromosome Location	chr3:42862047-42862287
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	chr3:42813432..42816285-chr3:42861675..42864587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244607	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542515867	chr3:42862072-42862073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200530116	chr3:42862103-42862104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143712001	chr3:42862114-42862115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561016951	chr3:42862119-42862120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148106284	chr3:42862140-42862141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527875823	chr3:42862144-42862145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs60103249	chr3:42862165-42862166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564171265	chr3:42862169-42862170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533001221	chr3:42862197-42862198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34544490	chr3:42862217-42862218	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574642061	chr3:42862218-42862219	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71072738	chr3:42862228-42862229	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57143502	chr3:42862236-42862237	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528433747	chr3:42862238-42862239	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540161490	chr3:42862269-42862270	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs55953104	chr3:42862278-42862279	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42853800-42862200	Weak transcription	Fetal Intestine Small	intestine
2	chr3:42857000-42869800	Weak transcription	Colonic Mucosa	Colon
3	chr3:42859600-42863200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:42859600-42863200	Enhancers	HepG2	liver
5	chr3:42860800-42862400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:42861000-42862200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:42861000-42862800	Enhancers	Stomach Mucosa	stomach
8	chr3:42861000-42863000	Enhancers	Hela-S3	cervix
9	chr3:42861000-42863400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:42861200-42862400	Enhancers	NHEK	skin
11	chr3:42861200-42862600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:42861200-42863000	Enhancers	HMEC	breast
13	chr3:42861200-42864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:42861400-42862400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:42861400-42862400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:42861400-42862600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:42861400-42864400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:42861400-42864400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:42861600-42862200	Weak transcription	Placenta	Placenta
20	chr3:42861600-42862800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:42861600-42864200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:42861600-42864200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:42861600-42864400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:42861600-42873000	Weak transcription	Esophagus	oesophagus
25	chr3:42861600-42885400	Weak transcription	Pancreas	Pancrea
26	chr3:42861800-42862200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:42861800-42864400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:42861800-42865000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:42861800-42868400	Weak transcription	Liver	Liver
30	chr3:42861800-42872600	Weak transcription	Brain Anterior Caudate	brain
31	chr3:42862200-42862400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:42862200-42862400	Enhancers	Fetal Intestine Small	intestine
33	chr3:42862200-42864200	Strong transcription	Placenta	Placenta
34	chr3:42862200-42864400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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