Variant report

Variant	esv3509757
Chromosome Location	chr5:127775553-127779451
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	chr3:62270932..62271598-chr5:127779199..127780071,2	MCF-7	breast:

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

Extended variants
information (count: 128 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544093291	chr5:127775755-127775756	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561121474	chr5:127775798-127775799	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574865559	chr5:127775816-127775817	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541843181	chr5:127775864-127775865	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187065941	chr5:127775912-127775913	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191875210	chr5:127775959-127775960	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62391607	chr5:127776029-127776030	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148278863	chr5:127776039-127776040	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532562120	chr5:127776089-127776090	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575457897	chr5:127776113-127776114	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374983497	chr5:127776147-127776148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377282859	chr5:127776161-127776162	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544768168	chr5:127776162-127776163	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183730479	chr5:127776194-127776195	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201204331	chr5:127776203-127776204	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563058833	chr5:127776231-127776232	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368788047	chr5:127776243-127776244	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189613970	chr5:127776257-127776258	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548531309	chr5:127776285-127776286	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568616754	chr5:127776295-127776296	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73347130	chr5:127776359-127776360	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546278040	chr5:127776388-127776389	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201394028	chr5:127776482-127776483	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193092564	chr5:127776501-127776502	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538269576	chr5:127776511-127776512	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550811807	chr5:127776516-127776517	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558097255	chr5:127776524-127776525	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141326985	chr5:127776538-127776539	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564676822	chr5:127776541-127776542	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538122447	chr5:127776553-127776554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35592011	chr5:127776573-127776574	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11950890	chr5:127776585-127776586	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs540947217	chr5:127776593-127776594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574567441	chr5:127776594-127776595	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540392076	chr5:127776609-127776610	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560871377	chr5:127776666-127776667	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150359473	chr5:127776679-127776680	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185499456	chr5:127776732-127776733	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546231545	chr5:127776805-127776806	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562882955	chr5:127776826-127776827	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138106761	chr5:127776852-127776853	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377410085	chr5:127776861-127776862	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542504834	chr5:127776864-127776865	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562183742	chr5:127776898-127776899	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370359620	chr5:127776917-127776918	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190424127	chr5:127776934-127776935	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566245280	chr5:127776971-127776972	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552945418	chr5:127777001-127777002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532062756	chr5:127777004-127777005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529258860	chr5:127777007-127777008	Weak transcription Strong transcription Enhancers	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
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:70 , 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	chr5:127763200-127776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:127765000-127776200	Weak transcription	Fetal Stomach	stomach
10	chr5:127765000-127776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:127769800-127776200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:127772000-127776000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:127772600-127807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:127772800-127781800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:127772800-127782000	Weak transcription	NHDF-Ad	bronchial
16	chr5:127772800-127787200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:127772800-127799800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:127773000-127776800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:127773000-127783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:127773000-127783800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:127773000-127785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:127773000-127788600	Weak transcription	Fetal Heart	heart
23	chr5:127773000-127809400	Weak transcription	HMEC	breast
24	chr5:127773200-127783600	Weak transcription	NH-A	brain
25	chr5:127773200-127785600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:127773400-127830000	Weak transcription	NHEK	skin
27	chr5:127774000-127776200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:127775400-127776000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:127776000-127777000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:127776000-127778400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:127776000-127785600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:127776200-127776400	Enhancers	Fetal Stomach	stomach
33	chr5:127776200-127777400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:127776200-127783600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:127776400-127776800	Weak transcription	Fetal Stomach	stomach
36	chr5:127776400-127777200	Enhancers	Fetal Lung	lung
37	chr5:127776600-127776800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:127776600-127777000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:127776600-127777200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr5:127776600-127778800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:127776800-127777000	Enhancers	Aorta	Aorta
42	chr5:127776800-127777200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr5:127776800-127777400	Enhancers	Fetal Stomach	stomach
44	chr5:127776800-127777800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:127777000-127777200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:127777000-127780200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:127777200-127777600	Weak transcription	Fetal Lung	lung
48	chr5:127777200-127778000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:127777200-127782000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:127777200-127793000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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