Variant report

Variant	nsv595655
Chromosome Location	chr4:148518245-148519763
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	chr4:148518766..148521760-chr4:148537381..148538897,2	MCF-7	breast:
2	chr4:148518441..148521336-chr4:148523862..148526303,2	K562	blood:

Variant related genes	Relation type
ENSG00000251298	chromatin interactions
ENSG00000164168	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10434124	chr4:148518245-148518246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10434125	chr4:148518265-148518266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs28485045	chr4:148518435-148518436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs532141808	chr4:148518436-148518437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28558982	chr4:148518437-148518438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs11722231	chr4:148518462-148518463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs75783205	chr4:148518481-148518482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544426644	chr4:148518489-148518490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548091269	chr4:148518510-148518511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192069710	chr4:148518606-148518607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116504003	chr4:148518609-148518610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116117471	chr4:148518610-148518611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556164529	chr4:148518621-148518622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4835430	chr4:148518647-148518648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs184471027	chr4:148518654-148518655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4835431	chr4:148518708-148518709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs368601482	chr4:148518722-148518723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541668714	chr4:148518723-148518724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77603156	chr4:148518740-148518741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11301239	chr4:148518780-148518781	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561554427	chr4:148518840-148518841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4835432	chr4:148518870-148518871	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs72721962	chr4:148518896-148518897	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72721964	chr4:148518922-148518923	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564592411	chr4:148518932-148518933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs4835433	chr4:148518943-148518944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs4835434	chr4:148518954-148518955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs4835435	chr4:148518960-148518961	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs536200737	chr4:148518962-148518963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs4835436	chr4:148519053-148519054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs548030247	chr4:148519097-148519098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566390196	chr4:148519103-148519104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4835437	chr4:148519144-148519145	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs148193883	chr4:148519153-148519154	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374493296	chr4:148519184-148519185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549728458	chr4:148519258-148519259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569970109	chr4:148519262-148519263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558103523	chr4:148519320-148519321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs11731451	chr4:148519339-148519340	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs11723354	chr4:148519354-148519355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs571954076	chr4:148519421-148519422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141128193	chr4:148519441-148519442	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11723296	chr4:148519443-148519444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs542202409	chr4:148519476-148519477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs10049595	chr4:148519477-148519478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs187399288	chr4:148519481-148519482	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs576775181	chr4:148519512-148519513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs545826656	chr4:148519528-148519529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs10049817	chr4:148519535-148519536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs150716090	chr4:148519570-148519571	Weak transcription Enhancers	Chromatin interactive region	2 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:52 , 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	chr4:148517600-148518600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:148517800-148518400	Enhancers	A549	lung
4	chr4:148517800-148518600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:148517800-148518600	Enhancers	NHEK	skin
6	chr4:148517800-148518800	Enhancers	HMEC	breast
7	chr4:148517800-148519000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:148518000-148518400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:148518000-148518600	Enhancers	HSMMtube	muscle
10	chr4:148518000-148518800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:148518000-148518800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:148518000-148518800	Enhancers	Pancreas	Pancrea
13	chr4:148518000-148518800	Enhancers	HSMM	muscle
14	chr4:148518000-148518800	Enhancers	HUVEC	blood vessel
15	chr4:148518000-148519000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:148518000-148519000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:148518000-148519000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:148518000-148519000	Enhancers	NHDF-Ad	bronchial
19	chr4:148518000-148519200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:148518000-148519200	Enhancers	NH-A	brain
21	chr4:148518000-148519200	Enhancers	NHLF	lung
22	chr4:148518000-148519200	Enhancers	Osteobl	bone
23	chr4:148518000-148519400	Enhancers	Hela-S3	cervix
24	chr4:148518000-148519800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:148518200-148518600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:148518200-148518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:148518200-148518600	Enhancers	Stomach Mucosa	stomach
28	chr4:148518200-148518800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:148518200-148519000	Enhancers	Stomach Smooth Muscle	stomach
30	chr4:148518400-148518800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:148518400-148519200	Enhancers	Aorta	Aorta
32	chr4:148518400-148520800	Weak transcription	A549	lung
33	chr4:148518600-148519000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:148518600-148520600	Weak transcription	HSMMtube	muscle
35	chr4:148518600-148521000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:148518800-148520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:148518800-148520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:148518800-148520800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:148518800-148520800	Weak transcription	HMEC	breast
40	chr4:148518800-148520800	Weak transcription	HSMM	muscle
41	chr4:148519000-148519200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:148519000-148520600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:148519000-148520800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:148519000-148520800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:148519000-148520800	Weak transcription	NHDF-Ad	bronchial
46	chr4:148519200-148520600	Weak transcription	Osteobl	bone
47	chr4:148519200-148520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:148519200-148520800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:148519200-148520800	Weak transcription	NH-A	brain
50	chr4:148519200-148520800	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links