Variant report

Variant	esv1830976
Chromosome Location	chr5:57277522-57359476
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57278201..57280786-chr5:57291082..57293497,2	K562	blood:
2	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
3	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:
4	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
5	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
6	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
7	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
8	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
9	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
10	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
11	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
12	chr5:57358822..57360505-chr5:57370261..57371953,2	MCF-7	breast:
13	chr5:57352872..57354791-chr5:57754482..57756403,2	MCF-7	breast:
14	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
15	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
16	chr5:57279398..57281900-chr5:57285710..57288017,2	K562	blood:
17	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
18	chr5:57342588..57345255-chr5:57743719..57745899,2	MCF-7	breast:
19	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
20	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:
21	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
22	chr5:57279398..57281900-chr5:57285710..57288017,2	K562	blood:
23	chr17:37617529..37618214-chr5:57312142..57313016,2	Hela-S3	cervix:
24	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:
25	chr5:57278201..57280786-chr5:57291082..57293497,2	K562	blood:
26	chr5:57290033..57292434-chr5:57751650..57753353,2	MCF-7	breast:
27	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions
ENSG00000167258	chromatin interactions

Extended variants
information (count: 2632 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2632 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9292147	chr5:57277522-57277523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534106003	chr5:57277536-57277537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555406732	chr5:57277587-57277588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77124678	chr5:57277589-57277590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73098806	chr5:57277707-57277708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556157320	chr5:57277708-57277709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34978933	chr5:57277818-57277819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs70973107	chr5:57277819-57277820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398108966	chr5:57277827-57277828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200132859	chr5:57277828-57277829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190176407	chr5:57277837-57277838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1489785	chr5:57277850-57277851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77156649	chr5:57277853-57277854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75685533	chr5:57277877-57277878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562290720	chr5:57277924-57277925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148320607	chr5:57277937-57277938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369132486	chr5:57277947-57277948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116614475	chr5:57277949-57277950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141755485	chr5:57277955-57277956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1546035	chr5:57277971-57277972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560616655	chr5:57277983-57277984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150561450	chr5:57278023-57278024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562531217	chr5:57278046-57278047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549155577	chr5:57278077-57278078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139892512	chr5:57278087-57278088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538099666	chr5:57278118-57278119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1844436	chr5:57278122-57278123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571229588	chr5:57278125-57278126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371211858	chr5:57278127-57278128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538622752	chr5:57278131-57278132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553938217	chr5:57278135-57278136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56170564	chr5:57278179-57278180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368567377	chr5:57278250-57278251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534167855	chr5:57278256-57278257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555886879	chr5:57278257-57278258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574253959	chr5:57278278-57278279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527678655	chr5:57278307-57278308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115804030	chr5:57278326-57278327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146261660	chr5:57278346-57278347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577646997	chr5:57278347-57278348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544977793	chr5:57278348-57278349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560424068	chr5:57278361-57278362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527748308	chr5:57278450-57278451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575833508	chr5:57278502-57278503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5868084	chr5:57278503-57278504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139114784	chr5:57278535-57278536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570865005	chr5:57278536-57278537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561111107	chr5:57278640-57278641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182769280	chr5:57278685-57278686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550134496	chr5:57278686-57278687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17634833	CNVD
Schizophrenia	23813976	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57275000-57284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:57277000-57282600	Weak transcription	Aorta	Aorta
3	chr5:57278200-57278400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:57278400-57283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:57280600-57281000	Enhancers	Fetal Brain Male	brain
6	chr5:57281000-57282600	Weak transcription	Fetal Brain Male	brain
7	chr5:57282000-57283600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:57282400-57283400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:57282400-57283800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:57282600-57282800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:57282600-57282800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:57282600-57283000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:57282600-57283000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:57282600-57283000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:57282600-57283000	Enhancers	HSMM	muscle
16	chr5:57282600-57283200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:57282600-57283200	Enhancers	Aorta	Aorta
18	chr5:57282600-57283200	Enhancers	Fetal Brain Male	brain
19	chr5:57282600-57283200	Enhancers	Left Ventricle	heart
20	chr5:57282600-57283200	Enhancers	HMEC	breast
21	chr5:57282600-57283200	Enhancers	HSMMtube	muscle
22	chr5:57282600-57283400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:57282600-57283400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:57282600-57283400	Enhancers	Brain Germinal Matrix	brain
25	chr5:57282600-57283400	Enhancers	A549	lung
26	chr5:57282600-57283400	Enhancers	NH-A	brain
27	chr5:57282600-57283400	Enhancers	Osteobl	bone
28	chr5:57282600-57283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:57282600-57283800	Enhancers	NHDF-Ad	bronchial
30	chr5:57282800-57283200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:57282800-57283200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:57282800-57283400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr5:57282800-57283400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:57282800-57283400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:57282800-57283400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:57282800-57283400	Enhancers	Fetal Brain Female	brain
37	chr5:57282800-57285400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:57283000-57283400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr5:57283000-57284800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:57283000-57285200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:57283200-57284800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:57283200-57284800	Weak transcription	Fetal Brain Male	brain
43	chr5:57283200-57284800	Weak transcription	Left Ventricle	heart
44	chr5:57283200-57284800	Weak transcription	HMEC	breast
45	chr5:57283200-57285200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:57283400-57283600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:57283400-57284600	Weak transcription	Fetal Brain Female	brain
48	chr5:57283400-57284600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:57283400-57284600	Weak transcription	A549	lung
50	chr5:57283400-57284800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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