Variant report

Variant	esv2030047
Chromosome Location	chr4:148787669-148787670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:147939970..147940883-chr4:148787667..148788628,4	K562	blood:
2	chr4:148605054..148606838-chr4:148786766..148789557,2	MCF-7	breast:
3	chr4:148602747..148604694-chr4:148786468..148788057,2	MCF-7	breast:
4	chr4:148628378..148630020-chr4:148787161..148788732,34	MCF-7	breast:
5	chr4:148628975..148629992-chr4:148787437..148788720,7	MCF-7	breast:
6	chr20:58508769..58509347-chr4:148787638..148788516,2	MCF-7	breast:
7	chr4:148787670..148788596-chr4:148796263..148797180,2	MCF-7	breast:
8	chr4:148604484..148605001-chr4:148787305..148788147,2	MCF-7	breast:
9	chr4:148439677..148440826-chr4:148787272..148788626,10	K562	blood:
10	chr4:148547064..148547916-chr4:148787644..148788200,2	MCF-7	breast:
11	chr4:148509882..148511690-chr4:148787031..148789794,2	MCF-7	breast:
12	chr4:148613328..148614734-chr4:148787640..148788623,7	MCF-7	breast:
13	chr4:148599912..148600517-chr4:148787659..148788439,3	MCF-7	breast:
14	chr4:148629250..148629859-chr4:148787588..148788271,2	K562	blood:
15	chr4:148515225..148515917-chr4:148787582..148788630,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164169	chromatin interactions
ENSG00000196227	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 70 )

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	rs4240341	chr4:148787669-148787670	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:148764600-148787800	Weak transcription	HMEC	breast
3	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
6	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
7	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
8	chr4:148777000-148796200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
10	chr4:148777400-148796600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:148777800-148796200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:148779800-148793800	Weak transcription	Fetal Lung	lung
13	chr4:148782000-148799400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:148782800-148787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:148783000-148796200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:148783000-148796200	Weak transcription	Thymus	Thymus
17	chr4:148783400-148796400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:148783400-148796400	Weak transcription	Lung	lung
19	chr4:148783600-148789800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:148783600-148796200	Weak transcription	Esophagus	oesophagus
21	chr4:148783600-148796200	Weak transcription	Placenta	Placenta
22	chr4:148783800-148788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:148783800-148788400	Weak transcription	Fetal Stomach	stomach
24	chr4:148783800-148789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:148783800-148790000	Weak transcription	Left Ventricle	heart
26	chr4:148783800-148796200	Weak transcription	Fetal Intestine Large	intestine
27	chr4:148783800-148796200	Weak transcription	Gastric	stomach
28	chr4:148783800-148796200	Weak transcription	Right Ventricle	heart
29	chr4:148784200-148788400	Enhancers	Colon Smooth Muscle	Colon
30	chr4:148784400-148810800	Weak transcription	Fetal Heart	heart
31	chr4:148784600-148796400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:148785400-148796200	Weak transcription	GM12878-XiMat	blood
33	chr4:148785600-148788400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:148785600-148796200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:148785800-148787800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:148786000-148788200	Weak transcription	NHDF-Ad	bronchial
37	chr4:148786000-148788400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:148786000-148788600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:148786000-148789800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:148786000-148790200	Strong transcription	HSMM	muscle
41	chr4:148786000-148804000	Weak transcription	Psoas Muscle	Psoas
42	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
43	chr4:148786200-148788000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:148786400-148788400	Weak transcription	Adipose Nuclei	Adipose
45	chr4:148786400-148788400	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:148786400-148796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:148786600-148788600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:148786800-148788000	Enhancers	HUVEC	blood vessel
49	chr4:148786800-148788200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr4:148786800-148788600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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