Variant report

Variant	esv33748
Chromosome Location	chr5:142638267-142699595
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:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:17)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:142677715..142680053-chr5:142689105..142691252,2	K562	blood:
2	chr5:142638248..142640637-chr5:142647659..142649424,2	K562	blood:
3	chr5:142652889..142654732-chr5:142654919..142656480,2	K562	blood:
4	chr5:142644399..142646450-chr5:142647478..142649255,2	K562	blood:
5	chr5:142655877..142658006-chr5:142659926..142661730,2	K562	blood:
6	chr5:142608719..142611580-chr5:142662478..142664615,2	K562	blood:
7	chr5:142667219..142669950-chr5:142671988..142675283,3	K562	blood:
8	chr5:142694144..142696912-chr5:142699243..142701777,2	K562	blood:
9	chr5:142634982..142637716-chr5:142639568..142643122,4	K562	blood:
10	chr5:142677715..142680053-chr5:142689105..142691252,2	K562	blood:
11	chr5:142661940..142664778-chr5:142666941..142669072,2	K562	blood:
12	chr5:142658714..142660899-chr5:142788959..142790974,2	K562	blood:
13	chr5:142692942..142695069-chr5:142695202..142696766,2	K562	blood:
14	chr5:142667219..142669950-chr5:142672970..142675283,2	K562	blood:
15	chr5:142661940..142664778-chr5:142666941..142669072,2	K562	blood:
16	chr5:142627694..142631315-chr5:142636071..142640618,4	K562	blood:
17	chr5:142629234..142631315-chr5:142636942..142639138,2	K562	blood:
18	chr5:142672258..142673872-chr5:142678279..142679872,2	K562	blood:
19	chr5:142692199..142694089-chr5:142770902..142772456,2	K562	blood:
20	chr5:142638248..142640637-chr5:142647659..142649424,2	K562	blood:
21	chr5:142664010..142666464-chr5:142736050..142738721,2	K562	blood:
22	chr5:142644399..142646450-chr5:142647478..142649255,2	K562	blood:
23	chr5:142655877..142658006-chr5:142659926..142661730,2	K562	blood:
24	chr5:142667219..142669950-chr5:142671988..142675283,3	K562	blood:
25	chr5:142640359..142641884-chr5:142784509..142786617,2	K562	blood:
26	chr5:142692942..142695069-chr5:142695202..142696766,2	K562	blood:
27	chr5:142652889..142654732-chr5:142654919..142656480,2	K562	blood:
28	chr5:142685940..142686838-chr5:143204805..143205503,2	K562	blood:
29	chr5:142694144..142696912-chr5:142699243..142701777,2	K562	blood:
30	chr5:142692596..142694749-chr5:142742836..142745085,2	K562	blood:
31	chr5:142667219..142669950-chr5:142672970..142675283,2	K562	blood:
32	chr5:142659505..142662280-chr5:142782348..142785528,3	K562	blood:
33	chr5:142672258..142673872-chr5:142678279..142679872,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP26-6	chr5:142640409-142640920	NONHSAT104348

No data

(count:17 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NR3C1	hsa-miR-124-3p	chr5:142661433-142661427
2	NR3C1	hsa-miR-155-5p	chr5:142657828-142657850
3	NR3C1	hsa-miR-421	chr5:142658643-142658664
4	NR3C1	hsa-miR-22-3p	chr5:142660842-142660835
5	NR3C1	hsa-miR-590-3p	chr5:142657783-142657803
6	NR3C1	hsa-miR-421	chr5:142660121-142660148
7	NR3C1	hsa-miR-124-3p	chr5:142661451-142661445
8	NR3C1	hsa-miR-22-3p	chr5:142660836-142660859
9	NR3C1	hsa-miR-124-3p	chr5:142660962-142660956
10	NR3C1	hsa-miR-130b-3p	chr5:142659482-142659503
11	NR3C1	hsa-miR-421	chr5:142660784-142660808
12	NR3C1	hsa-miR-18a-5p	chr5:142660075-142660068
13	NR3C1	hsa-miR-421	chr5:142657752-142657773
14	NR3C1	hsa-miR-421	chr5:142657948-142657971
15	NR3C1	hsa-miR-124-3p	chr5:142660956-142660975
16	NR3C1	hsa-miR-18a-5p	chr5:142660069-142660091
17	NR3C1	hsa-miR-590-3p	chr5:142657778-142657772

Variant related genes	Relation type
ENSG00000113580	chromatin interactions

Extended variants
information (count: 2112 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2112 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544529996	chr5:142638381-142638382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368787373	chr5:142638425-142638426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564361370	chr5:142638444-142638445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6885707	chr5:142638508-142638509	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142455521	chr5:142638520-142638521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540216172	chr5:142638604-142638605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117953445	chr5:142638718-142638719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538250817	chr5:142638728-142638729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188045173	chr5:142638769-142638770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548640865	chr5:142638781-142638782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140272328	chr5:142638787-142638788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562751876	chr5:142638788-142638789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566051109	chr5:142638808-142638809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531743009	chr5:142638855-142638856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551834286	chr5:142638902-142638903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6886584	chr5:142639004-142639005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558247974	chr5:142639015-142639016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571898993	chr5:142639061-142639062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17209216	chr5:142639062-142639063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs193033211	chr5:142639064-142639065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567634918	chr5:142639119-142639120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536756934	chr5:142639128-142639129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556656664	chr5:142639181-142639182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553967542	chr5:142639246-142639247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538044201	chr5:142639269-142639270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151254833	chr5:142639271-142639272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140436641	chr5:142639289-142639290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35254584	chr5:142639297-142639298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144308808	chr5:142639363-142639364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542563314	chr5:142639414-142639415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553374726	chr5:142639476-142639477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573267879	chr5:142639504-142639505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185189980	chr5:142639552-142639553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190636658	chr5:142639553-142639554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531827096	chr5:142639559-142639560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545565161	chr5:142639563-142639564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117693428	chr5:142639636-142639637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114838459	chr5:142639645-142639646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533919075	chr5:142639675-142639676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376596105	chr5:142639676-142639677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547737297	chr5:142639679-142639680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550986575	chr5:142639699-142639700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375742636	chr5:142639735-142639736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570959198	chr5:142639750-142639751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562448116	chr5:142639805-142639806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567675871	chr5:142639831-142639832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558493356	chr5:142639859-142639860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575594755	chr5:142639866-142639867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146568327	chr5:142639903-142639904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369007281	chr5:142639925-142639926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Schizophrenia	19546859	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	21062161	CNVD
Developmental delay	19128483	CNVD
Leukoplakia	24403051	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1522 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142629600-142641600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:142629800-142640800	Weak transcription	NHLF	lung
3	chr5:142630000-142641000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:142637200-142638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:142637400-142639000	Enhancers	HMEC	breast
6	chr5:142637600-142639200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:142637800-142640600	Weak transcription	K562	blood
8	chr5:142638000-142639000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:142638000-142641400	Weak transcription	HSMM	muscle
10	chr5:142638200-142639000	Enhancers	NHEK	skin
11	chr5:142638200-142640400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:142638800-142640600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:142638800-142641200	Weak transcription	Small Intestine	intestine
14	chr5:142639000-142640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:142639000-142640600	Weak transcription	HMEC	breast
16	chr5:142639000-142640600	Weak transcription	NHEK	skin
17	chr5:142639200-142640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:142640400-142640600	Enhancers	Brain Germinal Matrix	brain
19	chr5:142640400-142642200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:142640400-142643600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:142640600-142640800	Enhancers	K562	blood
22	chr5:142640600-142641400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:142640600-142642400	Enhancers	NHEK	skin
24	chr5:142640600-142642600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:142640600-142643400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:142640600-142643400	Enhancers	HMEC	breast
27	chr5:142640800-142641200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:142640800-142641600	Weak transcription	K562	blood
29	chr5:142640800-142643200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:142640800-142643400	Enhancers	NHLF	lung
31	chr5:142641000-142641400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:142641000-142642400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:142641000-142643000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:142641200-142641400	Enhancers	Brain Germinal Matrix	brain
35	chr5:142641200-142641400	Enhancers	Small Intestine	intestine
36	chr5:142641200-142642000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:142641200-142642200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr5:142641200-142642400	Enhancers	NHDF-Ad	bronchial
39	chr5:142641200-142642600	Enhancers	Osteobl	bone
40	chr5:142641200-142642800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:142641200-142643400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:142641400-142641800	Enhancers	HSMM	muscle
43	chr5:142641400-142642200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:142641400-142642600	Enhancers	NH-A	brain
45	chr5:142641600-142641800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr5:142641600-142641800	Enhancers	K562	blood
47	chr5:142641600-142642400	Enhancers	Hela-S3	cervix
48	chr5:142641600-142642600	ZNF genes & repeats	GM12878-XiMat	blood
49	chr5:142641600-142643000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:142641800-142642400	Enhancers	HUVEC	blood vessel

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