Variant report

Variant	esv2763374
Chromosome Location	chr4:87151085-87184332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87155810..87157593-chr4:87170077..87172350,2	K562	blood:
2	chr4:87155810..87157593-chr4:87170077..87172350,2	K562	blood:
3	chr4:87179144..87180691-chr4:87183736..87185339,2	K562	blood:
4	chr4:87134159..87136485-chr4:87181961..87184950,2	MCF-7	breast:
5	chr4:87183674..87187410-chr4:87190409..87192720,3	K562	blood:
6	chr4:87179144..87180691-chr4:87183736..87185339,2	K562	blood:

Extended variants
information (count: 1172 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1172 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549295718	chr4:87151147-87151148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560495371	chr4:87151186-87151187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527713129	chr4:87151187-87151188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113245585	chr4:87151249-87151250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61056426	chr4:87151250-87151251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375562960	chr4:87151252-87151253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568382037	chr4:87151253-87151254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79989417	chr4:87151366-87151367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565919790	chr4:87151373-87151374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535384496	chr4:87151467-87151468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6531905	chr4:87151468-87151469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558093653	chr4:87151534-87151535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568920097	chr4:87151540-87151541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17011547	chr4:87151567-87151568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146341415	chr4:87151618-87151619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550102381	chr4:87151628-87151629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566210245	chr4:87151659-87151660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533577767	chr4:87151677-87151678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555059758	chr4:87151708-87151709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190830170	chr4:87151747-87151748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6829766	chr4:87151771-87151772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556731734	chr4:87151796-87151797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578196191	chr4:87151823-87151824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545594939	chr4:87151853-87151854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193062887	chr4:87151869-87151870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17011551	chr4:87151908-87151909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543092965	chr4:87151957-87151958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574127824	chr4:87152054-87152055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561082267	chr4:87152125-87152126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529198414	chr4:87152138-87152139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77315523	chr4:87152161-87152162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569056256	chr4:87152187-87152188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138304652	chr4:87152266-87152267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17011556	chr4:87152298-87152299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566272105	chr4:87152320-87152321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566044567	chr4:87152376-87152377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7678392	chr4:87152390-87152391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571198115	chr4:87152403-87152404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369205034	chr4:87152423-87152424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28515691	chr4:87152515-87152516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7657056	chr4:87152546-87152547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567115833	chr4:87152547-87152548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538551904	chr4:87152575-87152576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146129626	chr4:87152639-87152640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111720436	chr4:87152640-87152641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578245650	chr4:87152662-87152663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576403394	chr4:87152673-87152674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545654627	chr4:87152709-87152710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200037133	chr4:87152720-87152721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185543497	chr4:87152752-87152753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87142600-87157800	Weak transcription	Fetal Stomach	stomach
2	chr4:87143000-87154000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:87144000-87154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:87145200-87154600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:87148000-87154000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:87149200-87186200	Weak transcription	Ovary	ovary
7	chr4:87149400-87154800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:87149800-87151800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:87151000-87154000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:87152800-87154400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:87153000-87155000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:87153200-87165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:87153800-87155200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:87154000-87154200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:87154000-87154600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:87154000-87155000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:87154000-87155000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:87154000-87155200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:87154000-87155200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:87154000-87155400	Enhancers	HMEC	breast
21	chr4:87154000-87155600	Enhancers	NHEK	skin
22	chr4:87154200-87154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:87154200-87155200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:87154200-87155400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:87154400-87155000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:87154400-87155200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:87154400-87155200	Enhancers	Osteobl	bone
28	chr4:87154400-87155400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:87154600-87155000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:87154600-87155000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:87154600-87155000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:87154600-87155000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:87154600-87155200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:87154600-87155200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:87154600-87155400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:87154600-87155400	Enhancers	HSMMtube	muscle
37	chr4:87154600-87155400	Enhancers	NH-A	brain
38	chr4:87154600-87155600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:87154800-87155000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:87154800-87155000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr4:87154800-87155200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:87154800-87155400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:87155000-87155400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:87155000-87156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:87155000-87165800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:87155200-87156400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:87155200-87164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:87155200-87185400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:87155400-87156800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:87155400-87163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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