Variant report

Variant	esv3335880
Chromosome Location	chr5:115514795-115514921
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	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185356051	chr5:115514796-115514797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146608183	chr5:115514814-115514815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569167729	chr5:115514823-115514824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1567336	chr5:115514830-115514831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1567337	chr5:115514834-115514835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs568477206	chr5:115514871-115514872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190564114	chr5:115514919-115514920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183007906	chr5:115514921-115514922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
5	chr5:115489800-115528600	Weak transcription	Ovary	ovary
6	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
7	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
9	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:115499200-115527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:115502400-115524400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:115502400-115526400	Weak transcription	Lung	lung
14	chr5:115502800-115521600	Weak transcription	Primary T cells from cord blood	blood
15	chr5:115508200-115518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:115508400-115517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:115508800-115529200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:115509200-115528400	Weak transcription	A549	lung
19	chr5:115509600-115533400	Weak transcription	HSMM	muscle
20	chr5:115510200-115521400	Weak transcription	Liver	Liver
21	chr5:115510200-115521600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:115510200-115522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:115510400-115522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:115510400-115524600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:115510400-115526200	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:115510400-115526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:115511800-115533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:115512000-115529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:115512200-115521600	Weak transcription	Primary B cells from cord blood	blood
30	chr5:115512200-115526800	Weak transcription	Fetal Intestine Small	intestine
31	chr5:115513000-115518600	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links