Variant report

Variant	esv3470689
Chromosome Location	chr5:127776728-127778308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FBN2	hsa-miR-92b-3p	chr5:127777876-127777897

Extended variants
information (count: 59 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185499456	chr5:127776732-127776733	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546231545	chr5:127776805-127776806	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562882955	chr5:127776826-127776827	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138106761	chr5:127776852-127776853	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377410085	chr5:127776861-127776862	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542504834	chr5:127776864-127776865	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562183742	chr5:127776898-127776899	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370359620	chr5:127776917-127776918	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190424127	chr5:127776934-127776935	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566245280	chr5:127776971-127776972	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552945418	chr5:127777001-127777002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532062756	chr5:127777004-127777005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529258860	chr5:127777007-127777008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551915666	chr5:127777008-127777009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568832487	chr5:127777010-127777011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537793732	chr5:127777011-127777012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181407136	chr5:127777038-127777039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568220273	chr5:127777094-127777095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185941414	chr5:127777131-127777132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572840550	chr5:127777138-127777139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553972834	chr5:127777156-127777157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188452351	chr5:127777164-127777165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546294946	chr5:127777170-127777171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556329533	chr5:127777181-127777182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373404971	chr5:127777213-127777214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143577899	chr5:127777261-127777262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549401265	chr5:127777299-127777300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10059301	chr5:127777361-127777362	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs555167828	chr5:127777370-127777371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11741832	chr5:127777397-127777398	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541817876	chr5:127777430-127777431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs331078	chr5:127777463-127777464	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570329613	chr5:127777479-127777480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539321578	chr5:127777493-127777494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541261559	chr5:127777545-127777546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181303208	chr5:127777567-127777568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532123629	chr5:127777582-127777583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10067405	chr5:127777607-127777608	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs376981696	chr5:127777690-127777691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560220459	chr5:127777716-127777717	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577666120	chr5:127777764-127777765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568820595	chr5:127777780-127777781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531343015	chr5:127777782-127777783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547851271	chr5:127777904-127777905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568377374	chr5:127777916-127777917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17697995	chr5:127777928-127777929	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554036197	chr5:127777970-127777971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17164115	chr5:127777978-127777979	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs539587071	chr5:127777996-127777997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13180243	chr5:127777997-127777998	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
2	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
4	chr5:127758400-127781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:127759800-127778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127760600-127783200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:127760600-127791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:127772600-127807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:127772800-127781800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:127772800-127782000	Weak transcription	NHDF-Ad	bronchial
11	chr5:127772800-127787200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:127772800-127799800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:127773000-127776800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:127773000-127783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:127773000-127783800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:127773000-127785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:127773000-127788600	Weak transcription	Fetal Heart	heart
18	chr5:127773000-127809400	Weak transcription	HMEC	breast
19	chr5:127773200-127783600	Weak transcription	NH-A	brain
20	chr5:127773200-127785600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:127773400-127830000	Weak transcription	NHEK	skin
22	chr5:127776000-127777000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:127776000-127778400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:127776000-127785600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:127776200-127777400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:127776200-127783600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:127776400-127776800	Weak transcription	Fetal Stomach	stomach
28	chr5:127776400-127777200	Enhancers	Fetal Lung	lung
29	chr5:127776600-127776800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:127776600-127777000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:127776600-127777200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:127776600-127778800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:127776800-127777000	Enhancers	Aorta	Aorta
34	chr5:127776800-127777200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:127776800-127777400	Enhancers	Fetal Stomach	stomach
36	chr5:127776800-127777800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:127777000-127777200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:127777000-127780200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:127777200-127777600	Weak transcription	Fetal Lung	lung
40	chr5:127777200-127778000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:127777200-127782000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:127777200-127793000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:127777400-127780200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:127777400-127789000	Weak transcription	Fetal Stomach	stomach
45	chr5:127777600-127778200	Enhancers	Fetal Lung	lung
46	chr5:127777800-127778200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:127777800-127778200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:127777800-127778400	Enhancers	Colon Smooth Muscle	Colon
49	chr5:127777800-127779400	Enhancers	Fetal Kidney	kidney
50	chr5:127777800-127780200	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links