Variant report

Variant	esv3449008
Chromosome Location	chr4:103541195-103541658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103541606..103542158-chr4:104012573..104013396,2	K562	blood:
2	chr4:103352382..103353232-chr4:103541499..103542313,2	K562	blood:
3	chr4:103421697..103423490-chr4:103540373..103542890,2	MCF-7	breast:
4	chr4:103541561..103542496-chr4:103929971..103930975,6	K562	blood:
5	chr4:103541542..103542179-chr4:103953624..103954304,2	MCF-7	breast:
6	chr4:103534263..103536665-chr4:103540346..103543565,3	K562	blood:
7	chr4:103541547..103542382-chr4:103953390..103954339,3	K562	blood:

Variant related genes	Relation type
ENSG00000109320	chromatin interactions
ENSG00000260651	chromatin interactions
ENSG00000248161	chromatin interactions
ENSG00000138821	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561877483	chr4:103541206-103541207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs190717549	chr4:103541245-103541246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528938583	chr4:103541253-103541254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115067224	chr4:103541256-103541257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184099172	chr4:103541259-103541260	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561756306	chr4:103541306-103541307	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34353522	chr4:103541328-103541329	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529132472	chr4:103541334-103541335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs55968198	chr4:103541338-103541339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs56325250	chr4:103541339-103541340	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs56259759	chr4:103541345-103541346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550982203	chr4:103541350-103541351	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570774563	chr4:103541441-103541442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538156732	chr4:103541538-103541539	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs549915071	chr4:103541552-103541553	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs568557110	chr4:103541577-103541578	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs188227444	chr4:103541638-103541639	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs553960128	chr4:103541643-103541644	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103483400-103541600	Weak transcription	K562	blood
2	chr4:103513000-103542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:103517600-103541600	Weak transcription	Right Atrium	heart
4	chr4:103521400-103554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:103533400-103541800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:103534000-103546200	Weak transcription	Small Intestine	intestine
7	chr4:103534800-103541600	Weak transcription	Psoas Muscle	Psoas
8	chr4:103535400-103541600	Weak transcription	Hela-S3	cervix
9	chr4:103536200-103552800	Weak transcription	Ovary	ovary
10	chr4:103536200-103595400	Weak transcription	Colonic Mucosa	Colon
11	chr4:103536400-103541600	Weak transcription	Brain Angular Gyrus	brain
12	chr4:103536400-103542000	Weak transcription	Fetal Brain Male	brain
13	chr4:103536400-103553400	Weak transcription	Fetal Brain Female	brain
14	chr4:103536600-103541800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:103536600-103541800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:103536600-103542000	Weak transcription	Fetal Kidney	kidney
17	chr4:103536600-103550800	Weak transcription	Thymus	Thymus
18	chr4:103536600-103562600	Weak transcription	Brain Germinal Matrix	brain
19	chr4:103536600-103595800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:103536800-103541600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:103536800-103541800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:103536800-103542000	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:103537600-103541600	Weak transcription	Fetal Heart	heart
24	chr4:103537800-103541600	Weak transcription	HUVEC	blood vessel
25	chr4:103537800-103544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:103537800-103546200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:103538000-103541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:103538000-103541600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:103538000-103544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:103538000-103545600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:103538000-103546600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:103538000-103552800	Weak transcription	Spleen	Spleen
33	chr4:103538200-103541600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:103538200-103541600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:103538200-103541600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:103538200-103541600	Weak transcription	Brain Substantia Nigra	brain
37	chr4:103538200-103541600	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:103538200-103541800	Weak transcription	Aorta	Aorta
39	chr4:103538200-103542000	Weak transcription	Left Ventricle	heart
40	chr4:103538200-103542000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:103538200-103546200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:103538200-103549400	Weak transcription	Fetal Lung	lung
43	chr4:103538200-103550800	Weak transcription	Lung	lung
44	chr4:103538200-103552400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:103538200-103555600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:103538200-103555600	Weak transcription	Gastric	stomach
47	chr4:103538200-103555800	Weak transcription	Esophagus	oesophagus
48	chr4:103538400-103541600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:103538400-103541600	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:103538600-103542000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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