Variant report

Variant	esv1795354
Chromosome Location	chr5:115609221-115612961
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	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:
2	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:

Extended variants
information (count: 213 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574969874	chr5:115609289-115609290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543625876	chr5:115609296-115609297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116420084	chr5:115609326-115609327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533637855	chr5:115609334-115609335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373433332	chr5:115609342-115609343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531312005	chr5:115609345-115609346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191143938	chr5:115609346-115609347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7701174	chr5:115609347-115609348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146563769	chr5:115609370-115609371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182180020	chr5:115609399-115609400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76501737	chr5:115609414-115609415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17139333	chr5:115609424-115609425	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550022216	chr5:115609431-115609432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10056823	chr5:115609454-115609455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs186538945	chr5:115609462-115609463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190916928	chr5:115609478-115609479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374744560	chr5:115609480-115609481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565968727	chr5:115609519-115609520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535003536	chr5:115609534-115609535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10071906	chr5:115609552-115609553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs575099988	chr5:115609555-115609556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183107229	chr5:115609557-115609558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557144452	chr5:115609558-115609559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577016964	chr5:115609566-115609567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186722068	chr5:115609569-115609570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564969163	chr5:115609578-115609579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527321164	chr5:115609584-115609585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537450720	chr5:115609585-115609586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541035441	chr5:115609614-115609615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549705596	chr5:115609678-115609679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548109378	chr5:115609740-115609741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560692983	chr5:115609742-115609743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374504642	chr5:115609750-115609751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571232613	chr5:115609762-115609763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs67139169	chr5:115609763-115609764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73784109	chr5:115609788-115609789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371917160	chr5:115609811-115609812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189858967	chr5:115609834-115609835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532325293	chr5:115609845-115609846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76156484	chr5:115609863-115609864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199542855	chr5:115609933-115609934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12152964	chr5:115609965-115609966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs534781960	chr5:115609980-115609981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73261035	chr5:115609991-115609992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4244403	chr5:115610020-115610021	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141303573	chr5:115610037-115610038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182543343	chr5:115610040-115610041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143220946	chr5:115610161-115610162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539625879	chr5:115610162-115610163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553254671	chr5:115610180-115610181	Enhancers 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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115560400-115610600	Weak transcription	Left Ventricle	heart
2	chr5:115579600-115610600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:115586800-115609800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:115586800-115610800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:115590800-115610200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:115599200-115612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:115600600-115611400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:115604600-115613200	Weak transcription	Psoas Muscle	Psoas
9	chr5:115608200-115609600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:115608200-115609800	Enhancers	NHLF	lung
11	chr5:115608800-115611600	Enhancers	Liver	Liver
12	chr5:115609000-115609400	Weak transcription	Fetal Kidney	kidney
13	chr5:115609000-115610000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:115609200-115610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:115609200-115610200	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:115609200-115612000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:115609400-115610000	Enhancers	Fetal Kidney	kidney
18	chr5:115609600-115610200	Enhancers	Colon Smooth Muscle	Colon
19	chr5:115609800-115610200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:115610000-115610200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:115610000-115610400	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:115610000-115610800	Weak transcription	Fetal Kidney	kidney
23	chr5:115610200-115611400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr5:115610600-115611000	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr5:115610800-115611000	Enhancers	Fetal Kidney	kidney
26	chr5:115610800-115611800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr5:115610800-115613600	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr5:115611000-115612400	Weak transcription	Fetal Kidney	kidney
29	chr5:115611000-115615000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:115611400-115611800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:115611600-115612400	Weak transcription	Liver	Liver
32	chr5:115611800-115612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:115612000-115614200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:115612400-115613400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr5:115612400-115613600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:115612400-115613600	ZNF genes & repeats	Liver	Liver
37	chr5:115612600-115613400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:115612600-115613600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr5:115612600-115613600	ZNF genes & repeats	Dnd41	blood
40	chr5:115612800-115613600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr5:115612800-115633200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:115612800-115633200	Weak transcription	Ovary	ovary

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