Variant report

Variant	esv3468266
Chromosome Location	chr4:96080129-96080781
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	chr4:96076258..96078033-chr4:96079736..96082501,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545109181	chr4:96080133-96080134	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372199578	chr4:96080178-96080179	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567177908	chr4:96080191-96080192	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564622499	chr4:96080210-96080211	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188277177	chr4:96080239-96080240	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540916291	chr4:96080278-96080279	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576807936	chr4:96080294-96080295	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544235566	chr4:96080317-96080318	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375327064	chr4:96080334-96080335	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533904359	chr4:96080412-96080413	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144342548	chr4:96080435-96080436	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150084824	chr4:96080440-96080441	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569838776	chr4:96080457-96080458	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111986634	chr4:96080470-96080471	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147714237	chr4:96080472-96080473	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190413376	chr4:96080489-96080490	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142586165	chr4:96080501-96080502	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547556018	chr4:96080522-96080523	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551858847	chr4:96080535-96080536	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571069857	chr4:96080549-96080550	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533777440	chr4:96080552-96080553	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146902444	chr4:96080560-96080561	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538683889	chr4:96080565-96080566	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559189157	chr4:96080626-96080627	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536563018	chr4:96080628-96080629	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182655440	chr4:96080630-96080631	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532800200	chr4:96080634-96080635	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549380447	chr4:96080696-96080697	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558269254	chr4:96080710-96080711	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12640643	chr4:96080717-96080718	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1865380	chr4:96080762-96080763	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138924448	chr4:96080777-96080778	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96054200-96084000	Weak transcription	A549	lung
2	chr4:96059800-96100400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:96061200-96088800	Weak transcription	Aorta	Aorta
4	chr4:96061200-96088800	Weak transcription	Ovary	ovary
5	chr4:96076000-96082000	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:96076600-96081400	Genic enhancers	Dnd41	blood
7	chr4:96076600-96084000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:96077200-96088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:96077400-96084000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:96077800-96086000	Weak transcription	Thymus	Thymus
11	chr4:96078000-96080200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:96078800-96080200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:96078800-96080400	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:96079000-96080200	Enhancers	Brain Anterior Caudate	brain
15	chr4:96079000-96080400	Enhancers	Brain Angular Gyrus	brain
16	chr4:96079200-96080400	Enhancers	Brain Substantia Nigra	brain
17	chr4:96079200-96080400	Enhancers	Fetal Kidney	kidney
18	chr4:96079400-96086600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:96079400-96087400	Weak transcription	Fetal Lung	lung
20	chr4:96079400-96088600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:96079400-96089000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:96079600-96080200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:96079600-96081400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:96079800-96080200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:96079800-96080200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:96079800-96080600	Enhancers	Primary T cells from cord blood	blood
27	chr4:96079800-96080600	Weak transcription	Fetal Stomach	stomach
28	chr4:96079800-96081200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:96079800-96081200	Enhancers	Fetal Thymus	thymus
30	chr4:96079800-96081400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:96079800-96081400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:96079800-96081400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:96080000-96080200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:96080000-96080600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr4:96080000-96080800	Enhancers	Brain Hippocampus Middle	brain
36	chr4:96080000-96086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:96080200-96080800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:96080200-96081000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:96080200-96081400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:96080200-96083400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:96080200-96084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:96080200-96084200	Weak transcription	Brain Anterior Caudate	brain
43	chr4:96080200-96087400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:96080400-96080800	Weak transcription	Brain Substantia Nigra	brain
45	chr4:96080400-96087400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:96080400-96088200	Weak transcription	Brain Angular Gyrus	brain
47	chr4:96080400-96098600	Weak transcription	Fetal Kidney	kidney
48	chr4:96080600-96080800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:96080600-96081400	Weak transcription	Primary T cells from cord blood	blood
50	chr4:96080600-96082400	Weak transcription	Fetal Muscle Trunk	muscle

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