Variant report

Variant	esv5049
Chromosome Location	chr8:125599474-125603393
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125504278..125506090-chr8:125598292..125600980,2	K562	blood:
2	chr8:125592407..125595560-chr8:125595966..125599501,3	K562	blood:
3	chr8:125602405..125607045-chr8:125825769..125829252,7	K562	blood:
4	chr8:125561468..125564818-chr8:125602459..125606146,3	K562	blood:
5	chr8:125597468..125600069-chr8:125711742..125713559,2	MCF-7	breast:
6	chr8:125595595..125597399-chr8:125601686..125604511,2	MCF-7	breast:
7	chr8:125601699..125603557-chr8:125863717..125866161,2	MCF-7	breast:
8	chr8:125591885..125595054-chr8:125597547..125600154,4	K562	blood:
9	chr8:125602831..125606527-chr8:125825901..125829225,5	K562	blood:
10	chr8:125462126..125464672-chr8:125602969..125605366,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000183665	chromatin interactions

Extended variants
information (count: 199 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78409926	chr8:125599476-125599477	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78967314	chr8:125599489-125599490	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181533748	chr8:125599554-125599555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559128586	chr8:125599562-125599563	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551010414	chr8:125599576-125599577	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142760099	chr8:125599600-125599601	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549657341	chr8:125599612-125599613	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16899786	chr8:125599625-125599626	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs537801796	chr8:125599645-125599646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551758587	chr8:125599699-125599700	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571613465	chr8:125599726-125599727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534320512	chr8:125599769-125599770	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554334270	chr8:125599784-125599785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574268367	chr8:125599793-125599794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536888007	chr8:125599805-125599806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536456666	chr8:125599815-125599816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35396054	chr8:125599816-125599817	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544645609	chr8:125599853-125599854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371152651	chr8:125599885-125599886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564918970	chr8:125599896-125599897	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571975192	chr8:125599910-125599911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541107105	chr8:125599945-125599946	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116825057	chr8:125600049-125600050	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529838905	chr8:125600070-125600071	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567072027	chr8:125600090-125600091	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562290148	chr8:125600097-125600098	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17372901	chr8:125600160-125600161	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs563199125	chr8:125600192-125600193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150332661	chr8:125600201-125600202	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577545785	chr8:125600227-125600228	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551455924	chr8:125600243-125600244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571592512	chr8:125600244-125600245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6990410	chr8:125600298-125600299	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138879464	chr8:125600311-125600312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149416352	chr8:125600352-125600353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536796529	chr8:125600380-125600381	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556812050	chr8:125600382-125600383	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7010757	chr8:125600410-125600411	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs539298241	chr8:125600429-125600430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559023538	chr8:125600486-125600487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191191771	chr8:125600492-125600493	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540674365	chr8:125600499-125600500	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527285650	chr8:125600513-125600514	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73341843	chr8:125600537-125600538	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556982502	chr8:125600604-125600605	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76323552	chr8:125600610-125600611	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs36105623	chr8:125600613-125600614	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs386729573	chr8:125600614-125600615	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs546061319	chr8:125600615-125600616	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144833562	chr8:125600622-125600623	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566400-125600600	Weak transcription	NHEK	skin
3	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
6	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
7	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
8	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
11	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
12	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
13	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
14	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
15	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:125590600-125600600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:125590800-125600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:125590800-125603600	Strong transcription	HepG2	liver
19	chr8:125591000-125602600	Weak transcription	NHLF	lung
20	chr8:125591400-125603600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:125591800-125603000	Weak transcription	Fetal Brain Male	brain
22	chr8:125592000-125605400	Weak transcription	Osteobl	bone
23	chr8:125592000-125605600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:125592200-125602600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:125592200-125604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:125592200-125605400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:125592400-125603400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:125592600-125605000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:125593000-125602600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:125593600-125606800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:125594000-125603600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:125595600-125601600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:125595800-125600600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:125595800-125602600	Weak transcription	Lung	lung
35	chr8:125596000-125605800	Weak transcription	HSMM	muscle
36	chr8:125596200-125603400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:125596200-125616400	Weak transcription	HSMMtube	muscle
38	chr8:125596400-125609800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:125596800-125600000	Weak transcription	HMEC	breast
40	chr8:125596800-125605000	Weak transcription	HUVEC	blood vessel
41	chr8:125597000-125602000	Weak transcription	Brain Substantia Nigra	brain
42	chr8:125597000-125603800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:125597200-125600200	Weak transcription	Left Ventricle	heart
44	chr8:125597200-125600400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:125597200-125600600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:125597200-125601800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:125597200-125607000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:125597400-125600200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:125597400-125600200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:125597400-125600200	Weak transcription	Monocytes-CD14+_RO01746	blood

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