Variant report

Variant	esv1829169
Chromosome Location	chr4:148515833-148519535
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:148517290..148518095-chr4:148787896..148788545,2	MCF-7	breast:
2	chr4:148518441..148521336-chr4:148523862..148526303,2	K562	blood:
3	chr4:148517547..148518065-chr4:148788601..148789204,2	MCF-7	breast:
4	chr4:148515308..148517900-chr4:148536751..148539491,4	MCF-7	breast:
5	chr4:148515105..148516058-chr4:148787913..148788604,2	MCF-7	breast:
6	chr4:148515225..148515917-chr4:148787582..148788630,4	MCF-7	breast:
7	chr4:148518766..148521760-chr4:148537381..148538897,2	MCF-7	breast:
8	chr4:148515221..148517290-chr4:148603248..148605420,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164168	chromatin interactions
ENSG00000164169	chromatin interactions
ENSG00000251298	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6836543	chr4:148515833-148515834	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537444426	chr4:148515857-148515858	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs557360893	chr4:148515866-148515867	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs73853959	chr4:148515867-148515868	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11444887	chr4:148515926-148515927	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs397771192	chr4:148515927-148515928	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs367773228	chr4:148515928-148515929	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs371716622	chr4:148515929-148515930	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs375861876	chr4:148515930-148515931	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs533905099	chr4:148515943-148515944	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs371366484	chr4:148515971-148515972	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs548530849	chr4:148516001-148516002	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs573786362	chr4:148516011-148516012	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs191750473	chr4:148516026-148516027	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs375750844	chr4:148516059-148516060	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs542900580	chr4:148516137-148516138	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs562758848	chr4:148516181-148516182	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs75249194	chr4:148516204-148516205	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs58439954	chr4:148516334-148516335	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77693399	chr4:148516359-148516360	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs112551964	chr4:148516369-148516370	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs544593594	chr4:148516372-148516373	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs369709829	chr4:148516373-148516374	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs55754462	chr4:148516374-148516375	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs199765949	chr4:148516375-148516376	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs377480794	chr4:148516376-148516377	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs113073568	chr4:148516381-148516382	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs200990770	chr4:148516387-148516388	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs533234373	chr4:148516408-148516409	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs547092943	chr4:148516426-148516427	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs181751957	chr4:148516450-148516451	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560434082	chr4:148516459-148516460	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs529438213	chr4:148516464-148516465	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs186415312	chr4:148516467-148516468	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs569187496	chr4:148516468-148516469	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs6842562	chr4:148516474-148516475	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs571461002	chr4:148516481-148516482	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs374945268	chr4:148516486-148516487	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs551057406	chr4:148516490-148516491	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538789533	chr4:148516491-148516492	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs571244548	chr4:148516502-148516503	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs377690239	chr4:148516523-148516524	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs553843764	chr4:148516531-148516532	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs370627355	chr4:148516566-148516567	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs34235493	chr4:148516598-148516599	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs10434122	chr4:148516605-148516606	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
47	rs556419985	chr4:148516612-148516613	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370610133	chr4:148516617-148516618	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs545337435	chr4:148516629-148516630	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs190875459	chr4:148516630-148516631	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148510200-148520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:148512000-148517800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:148512400-148517800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:148512600-148518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:148512600-148518000	Weak transcription	NHLF	lung
6	chr4:148512600-148518200	Weak transcription	Stomach Mucosa	stomach
7	chr4:148512800-148518000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:148515400-148516000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:148515800-148516000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:148516000-148518000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:148517600-148518600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:148517800-148518400	Enhancers	A549	lung
13	chr4:148517800-148518600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:148517800-148518600	Enhancers	NHEK	skin
15	chr4:148517800-148518800	Enhancers	HMEC	breast
16	chr4:148517800-148519000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:148518000-148518400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:148518000-148518600	Enhancers	HSMMtube	muscle
19	chr4:148518000-148518800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:148518000-148518800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:148518000-148518800	Enhancers	Pancreas	Pancrea
22	chr4:148518000-148518800	Enhancers	HSMM	muscle
23	chr4:148518000-148518800	Enhancers	HUVEC	blood vessel
24	chr4:148518000-148519000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:148518000-148519000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:148518000-148519000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:148518000-148519000	Enhancers	NHDF-Ad	bronchial
28	chr4:148518000-148519200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:148518000-148519200	Enhancers	NH-A	brain
30	chr4:148518000-148519200	Enhancers	NHLF	lung
31	chr4:148518000-148519200	Enhancers	Osteobl	bone
32	chr4:148518000-148519400	Enhancers	Hela-S3	cervix
33	chr4:148518000-148519800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:148518200-148518600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:148518200-148518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:148518200-148518600	Enhancers	Stomach Mucosa	stomach
37	chr4:148518200-148518800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:148518200-148519000	Enhancers	Stomach Smooth Muscle	stomach
39	chr4:148518400-148518800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:148518400-148519200	Enhancers	Aorta	Aorta
41	chr4:148518400-148520800	Weak transcription	A549	lung
42	chr4:148518600-148519000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:148518600-148520600	Weak transcription	HSMMtube	muscle
44	chr4:148518600-148521000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:148518800-148520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:148518800-148520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:148518800-148520800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:148518800-148520800	Weak transcription	HMEC	breast
49	chr4:148518800-148520800	Weak transcription	HSMM	muscle
50	chr4:148519000-148519200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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