Variant report

Variant	esv2281407
Chromosome Location	chr4:77059031-77059034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77058522..77060950-chr4:77099295..77101938,2	MCF-7	breast:
2	chr4:77031133..77035310-chr4:77057270..77059295,3	K562	blood:
3	chr4:77058580..77061268-chr4:77061902..77064829,3	MCF-7	breast:
4	chr4:77056276..77058049-chr4:77058093..77060100,3	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 74 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147654069	chr4:77059031-77059032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77028000-77068600	Weak transcription	Gastric	stomach
2	chr4:77032600-77067600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:77033200-77066000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:77033200-77068400	Weak transcription	Small Intestine	intestine
5	chr4:77033400-77065600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:77033400-77066000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:77033400-77066600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:77033600-77065600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr4:77033800-77066200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:77034000-77066000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:77034400-77067200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:77035000-77068400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:77035200-77062000	Weak transcription	Esophagus	oesophagus
14	chr4:77035200-77068600	Weak transcription	Pancreas	Pancrea
15	chr4:77035400-77066000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:77035600-77068400	Weak transcription	Right Ventricle	heart
17	chr4:77038200-77062000	Weak transcription	Aorta	Aorta
18	chr4:77039000-77061800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:77039000-77068200	Weak transcription	Psoas Muscle	Psoas
20	chr4:77039000-77068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:77040800-77063200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:77043600-77059400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:77043800-77059800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:77044200-77068200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:77044400-77059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:77044400-77059600	Weak transcription	HSMMtube	muscle
27	chr4:77044400-77062000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:77044600-77061800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:77044600-77062000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:77045000-77068600	Weak transcription	Spleen	Spleen
31	chr4:77047000-77063400	Strong transcription	Liver	Liver
32	chr4:77047200-77065600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr4:77048600-77065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:77048800-77065600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr4:77049200-77063400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr4:77049200-77064800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:77049200-77065600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:77050200-77061400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:77050200-77068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:77050600-77062000	Weak transcription	Fetal Heart	heart
41	chr4:77050800-77059200	Weak transcription	A549	lung
42	chr4:77051000-77061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:77051400-77064400	Weak transcription	Fetal Intestine Small	intestine
44	chr4:77051400-77065200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:77051400-77066000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:77051400-77068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:77052200-77059200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:77053400-77065600	Strong transcription	Fetal Thymus	thymus
49	chr4:77053600-77065200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:77053600-77065400	Strong transcription	Fetal Intestine Large	intestine

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