Variant report

Variant	esv3414061
Chromosome Location	chr5:115238631-115249108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115245411..115247547-chr5:115255771..115257429,2	K562	blood:
2	chr5:115232531..115235335-chr5:115239466..115241502,2	MCF-7	breast:
3	chr5:115242319..115244783-chr5:115252510..115254022,2	K562	blood:

Extended variants
information (count: 398 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540433305	chr5:115238647-115238648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540824236	chr5:115238665-115238666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199536113	chr5:115238670-115238671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374640142	chr5:115238714-115238715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs41332950	chr5:115238716-115238717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377646390	chr5:115238732-115238733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541550340	chr5:115238769-115238770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561706161	chr5:115238798-115238799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374139764	chr5:115238814-115238815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189690373	chr5:115238819-115238820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182809021	chr5:115238828-115238829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116491926	chr5:115238860-115238861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533118539	chr5:115238863-115238864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545984224	chr5:115238887-115238888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71581217	chr5:115238909-115238910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560544793	chr5:115238925-115238926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529385166	chr5:115238927-115238928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34038606	chr5:115238936-115238937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186530808	chr5:115238945-115238946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569228122	chr5:115238980-115238981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3797564	chr5:115239004-115239005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs552006145	chr5:115239031-115239032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571858595	chr5:115239054-115239055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534097046	chr5:115239082-115239083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77463231	chr5:115239177-115239178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139485209	chr5:115239189-115239190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149744795	chr5:115239193-115239194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555217396	chr5:115239234-115239235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543872622	chr5:115239235-115239236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62371492	chr5:115239256-115239257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs578016458	chr5:115239312-115239313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62371493	chr5:115239313-115239314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560374174	chr5:115239343-115239344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529142593	chr5:115239366-115239367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549456257	chr5:115239376-115239377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191342619	chr5:115239416-115239417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531691607	chr5:115239478-115239479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10052982	chr5:115239480-115239481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561669271	chr5:115239490-115239491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146764862	chr5:115239502-115239503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139289911	chr5:115239541-115239542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190410	chr5:115239624-115239625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80068038	chr5:115239630-115239631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368995581	chr5:115239643-115239644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567514516	chr5:115239660-115239661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560571026	chr5:115239668-115239669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373198464	chr5:115239671-115239672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555399810	chr5:115239709-115239710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144080617	chr5:115239710-115239711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537819263	chr5:115239715-115239716	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
Prostate cancer	22341455	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115193200-115239000	Weak transcription	Gastric	stomach
2	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
3	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
4	chr5:115207600-115239200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:115207600-115244600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
8	chr5:115207800-115250800	Weak transcription	Adipose Nuclei	Adipose
9	chr5:115207800-115254000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:115208000-115253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:115218600-115253000	Weak transcription	Placenta	Placenta
12	chr5:115218800-115253600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:115219000-115252800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:115219200-115252800	Weak transcription	Pancreas	Pancrea
15	chr5:115219200-115253200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:115219400-115246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:115219400-115251000	Weak transcription	Fetal Lung	lung
18	chr5:115219400-115252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:115219600-115256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:115221400-115253800	Weak transcription	Fetal Stomach	stomach
21	chr5:115221400-115254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:115222000-115252800	Weak transcription	Fetal Intestine Small	intestine
23	chr5:115225600-115253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:115228000-115249200	Weak transcription	HSMMtube	muscle
25	chr5:115230200-115254000	Weak transcription	Ovary	ovary
26	chr5:115230600-115250200	Weak transcription	Liver	Liver
27	chr5:115231600-115245800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:115231600-115247200	Weak transcription	NHDF-Ad	bronchial
29	chr5:115234400-115252200	Weak transcription	Osteobl	bone
30	chr5:115234400-115258800	Weak transcription	Primary T cells from cord blood	blood
31	chr5:115234600-115249000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:115234600-115249200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:115234600-115249200	Weak transcription	HSMM	muscle
34	chr5:115234600-115250800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:115234800-115240400	Weak transcription	HMEC	breast
36	chr5:115234800-115250800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:115234800-115252600	Weak transcription	GM12878-XiMat	blood
38	chr5:115234800-115253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:115234800-115255000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:115234800-115255200	Weak transcription	Primary B cells from cord blood	blood
41	chr5:115234800-115255400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:115234800-115257800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:115235000-115243200	Weak transcription	Fetal Intestine Large	intestine
44	chr5:115235000-115245600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:115235000-115250400	Weak transcription	Left Ventricle	heart
46	chr5:115235000-115250600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:115235000-115251600	Weak transcription	HUVEC	blood vessel
48	chr5:115235000-115254200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:115235000-115257800	Weak transcription	NH-A	brain
50	chr5:115235200-115251000	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links