Variant report

Variant	esv3355623
Chromosome Location	chr4:166313052-166314750
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	chr4:166314486..166316368-chr4:166318044..166320457,2	K562	blood:
2	chr4:166299654..166301660-chr4:166314118..166315958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109472	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547599631	chr4:166313058-166313059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17046389	chr4:166313062-166313063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs528214639	chr4:166313256-166313257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58681495	chr4:166313258-166313259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568016083	chr4:166313294-166313295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13107824	chr4:166313296-166313297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528920774	chr4:166313302-166313303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13132070	chr4:166313317-166313318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550861942	chr4:166313343-166313344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28547097	chr4:166313345-166313346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs13108000	chr4:166313356-166313357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539615013	chr4:166313359-166313360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13108004	chr4:166313362-166313363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13132263	chr4:166313363-166313364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13108010	chr4:166313370-166313371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13132274	chr4:166313375-166313376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13132284	chr4:166313385-166313386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13108022	chr4:166313391-166313392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13108035	chr4:166313401-166313402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13132314	chr4:166313427-166313428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13108065	chr4:166313436-166313437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13108067	chr4:166313440-166313441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532328716	chr4:166313457-166313458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28373383	chr4:166313511-166313512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552011772	chr4:166313523-166313524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566666161	chr4:166313527-166313528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183389286	chr4:166313580-166313581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142637113	chr4:166313630-166313631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9993583	chr4:166313672-166313673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202049714	chr4:166313678-166313679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372263893	chr4:166313697-166313698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28502430	chr4:166313819-166313820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141175965	chr4:166314034-166314035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190803473	chr4:166314062-166314063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183354323	chr4:166314126-166314127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1866217	chr4:166314147-166314148	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs578221803	chr4:166314153-166314154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs72701672	chr4:166314164-166314165	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371821599	chr4:166314253-166314254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186528143	chr4:166314281-166314282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71618453	chr4:166314314-166314315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560444070	chr4:166314341-166314342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559667382	chr4:166314377-166314378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540305190	chr4:166314381-166314382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189741747	chr4:166314442-166314443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150979222	chr4:166314449-166314450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183064340	chr4:166314563-166314564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527260545	chr4:166314568-166314569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533034447	chr4:166314602-166314603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs56131908	chr4:166314629-166314630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166301400-166314800	Weak transcription	Fetal Kidney	kidney
2	chr4:166302200-166314600	Weak transcription	Brain Substantia Nigra	brain
3	chr4:166304400-166332400	Weak transcription	Brain Angular Gyrus	brain
4	chr4:166305200-166314800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:166305200-166319400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:166305600-166314200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:166305800-166330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:166306400-166314200	Weak transcription	Brain Anterior Caudate	brain
9	chr4:166306600-166324800	Weak transcription	Fetal Stomach	stomach
10	chr4:166307000-166314600	Weak transcription	Fetal Lung	lung
11	chr4:166307200-166322200	Weak transcription	HepG2	liver
12	chr4:166309400-166314600	Weak transcription	Aorta	Aorta
13	chr4:166310600-166314800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:166311400-166319600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:166311400-166327400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:166312200-166318800	Weak transcription	Fetal Brain Male	brain
17	chr4:166312600-166313200	Enhancers	Fetal Brain Female	brain
18	chr4:166312600-166313200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:166313200-166314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:166313200-166316200	Weak transcription	Fetal Brain Female	brain
21	chr4:166314200-166314600	Weak transcription	Ovary	ovary
22	chr4:166314200-166315000	Enhancers	Brain Anterior Caudate	brain
23	chr4:166314200-166315000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:166314200-166315400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:166314600-166315000	Enhancers	Aorta	Aorta
26	chr4:166314600-166315400	Enhancers	Brain Substantia Nigra	brain
27	chr4:166314600-166315400	Enhancers	Fetal Intestine Large	intestine
28	chr4:166314600-166315400	Enhancers	Fetal Lung	lung

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