Variant report

Variant	esv1397144
Chromosome Location	chr4:69214209-69214210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:69212213..69214534-chr4:69225131..69226946,2	MCF-7	breast:
2	chr4:69201801..69210708-chr4:69210917..69216982,18	MCF-7	breast:
3	chr4:69213512..69216500-chr4:69770884..69773457,2	MCF-7	breast:
4	chr4:69188150..69190673-chr4:69212848..69214663,2	K562	blood:
5	chr4:69212970..69215845-chr4:69239349..69242311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162840	chromatin interactions
ENSG00000272626	chromatin interactions
ENSG00000083896	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 93 )

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	rs547372232	chr4:69214210-69214211	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69189200-69214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:69204600-69214600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:69211000-69216000	Active TSS	GM12878-XiMat	blood
4	chr4:69212200-69214600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr4:69212200-69214600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:69212200-69214800	Weak transcription	Spleen	Spleen
7	chr4:69212200-69215000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:69212200-69216400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:69212400-69214600	Weak transcription	Gastric	stomach
10	chr4:69212400-69215800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:69212400-69216400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:69212600-69214800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr4:69212600-69214800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr4:69212600-69215000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr4:69212600-69216000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr4:69212600-69216000	Active TSS	Fetal Intestine Large	intestine
17	chr4:69212600-69216400	Active TSS	Brain Germinal Matrix	brain
18	chr4:69212600-69216400	Active TSS	Fetal Kidney	kidney
19	chr4:69212800-69214400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr4:69212800-69214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:69212800-69214800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr4:69212800-69214800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:69212800-69214800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:69212800-69216000	Active TSS	NHEK	skin
25	chr4:69212800-69216200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr4:69212800-69216200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr4:69212800-69216200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:69212800-69216200	Active TSS	Aorta	Aorta
29	chr4:69212800-69216200	Active TSS	Right Ventricle	heart
30	chr4:69212800-69216400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr4:69213000-69214400	Flanking Active TSS	Fetal Lung	lung
32	chr4:69213000-69214400	Flanking Active TSS	HUVEC	blood vessel
33	chr4:69213000-69214600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:69213000-69214600	Flanking Active TSS	Fetal Brain Male	brain
35	chr4:69213000-69214600	Weak transcription	Stomach Mucosa	stomach
36	chr4:69213000-69214800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:69213000-69214800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr4:69213000-69215400	Active TSS	Right Atrium	heart
39	chr4:69213000-69215800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:69213000-69215800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:69213000-69215800	Active TSS	HMEC	breast
42	chr4:69213000-69216000	Active TSS	Fetal Stomach	stomach
43	chr4:69213000-69216000	Active TSS	Thymus	Thymus
44	chr4:69213000-69216200	Active TSS	Ovary	ovary
45	chr4:69213200-69214600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr4:69213200-69214600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr4:69213200-69214600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr4:69213200-69215800	Active TSS	Placenta	Placenta
49	chr4:69213200-69216000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr4:69213200-69216000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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