Variant report

Variant	esv1980765
Chromosome Location	chr4:106124550-106124894
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	chr4:106066798..106071531-chr4:106121174..106128252,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168769	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6533182	chr4:106124585-106124586	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560823297	chr4:106124630-106124631	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558348968	chr4:106124669-106124670	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185392382	chr4:106124679-106124680	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544782909	chr4:106124693-106124694	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551815955	chr4:106124702-106124703	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112139076	chr4:106124706-106124707	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570019312	chr4:106124759-106124760	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144147829	chr4:106124771-106124772	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555224584	chr4:106124784-106124785	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13137494	chr4:106124793-106124794	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575141594	chr4:106124854-106124855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540939134	chr4:106124867-106124868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114901590	chr4:106124868-106124869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21518781	CNVD
Myelomonocytic leukemia	20595094	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106084800-106127400	Weak transcription	Brain Germinal Matrix	brain
2	chr4:106101000-106146600	Weak transcription	Spleen	Spleen
3	chr4:106102800-106127400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:106106000-106135000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:106106200-106155000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:106106600-106125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:106111800-106127400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:106112200-106127200	Weak transcription	Primary T cells from cord blood	blood
9	chr4:106112400-106127000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:106112800-106127400	Weak transcription	Placenta	Placenta
11	chr4:106113000-106126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:106113000-106127200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:106113000-106154800	Weak transcription	Fetal Thymus	thymus
14	chr4:106113200-106136000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:106113200-106136000	Weak transcription	Brain Substantia Nigra	brain
16	chr4:106113200-106136800	Weak transcription	Fetal Kidney	kidney
17	chr4:106113200-106146600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:106113600-106136000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:106113600-106173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:106113600-106195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:106114400-106129000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:106114400-106136200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:106114400-106155200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:106114600-106127400	Weak transcription	Right Ventricle	heart
25	chr4:106114600-106127400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:106114600-106127400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:106114600-106134400	Weak transcription	Liver	Liver
28	chr4:106114600-106136000	Weak transcription	Pancreas	Pancrea
29	chr4:106114600-106145400	Weak transcription	Adipose Nuclei	Adipose
30	chr4:106114600-106155600	Weak transcription	Esophagus	oesophagus
31	chr4:106116400-106130000	Weak transcription	HMEC	breast
32	chr4:106116400-106131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:106117600-106136000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:106118000-106136200	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:106118000-106136800	Weak transcription	HSMMtube	muscle
36	chr4:106118000-106155400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:106118200-106135600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:106118400-106135800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:106118600-106127000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:106118800-106127000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:106118800-106127000	Weak transcription	Fetal Heart	heart
42	chr4:106118800-106127200	Weak transcription	Left Ventricle	heart
43	chr4:106118800-106127400	Weak transcription	Primary B cells from cord blood	blood
44	chr4:106118800-106128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:106118800-106131400	Weak transcription	Fetal Intestine Small	intestine
46	chr4:106118800-106131400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:106118800-106131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:106118800-106135000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:106118800-106136000	Weak transcription	NH-A	brain
50	chr4:106118800-106136800	Weak transcription	Fetal Intestine Large	intestine

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