Variant report

Variant	nsv470069
Chromosome Location	chr4:125807868-125850998
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
2	chr4:125631876..125635862-chr4:125822303..125828252,7	MCF-7	breast:
3	chr4:125632895..125634759-chr4:125807417..125811100,3	MCF-7	breast:
4	chr4:125782896..125785311-chr4:125806709..125809197,2	MCF-7	breast:
5	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
6	chr4:125632317..125635750-chr4:125823538..125828224,6	MCF-7	breast:
7	chr4:125633614..125636587-chr4:125806033..125809617,4	MCF-7	breast:
8	chr4:125808803..125809436-chr4:125885151..125885920,2	MCF-7	breast:
9	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
10	chr4:125825931..125828528-chr4:125854551..125857392,2	MCF-7	breast:
11	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
12	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
13	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 1801 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1801 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9993168	chr4:125807868-125807869	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569668040	chr4:125807957-125807958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533993655	chr4:125807963-125807964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72918658	chr4:125808014-125808015	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35111270	chr4:125808200-125808201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs368518522	chr4:125808284-125808285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1238475	chr4:125808291-125808292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553151518	chr4:125808320-125808321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138142652	chr4:125808352-125808353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538956770	chr4:125808360-125808361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185903630	chr4:125808394-125808395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192037581	chr4:125808415-125808416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543033332	chr4:125808475-125808476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183129115	chr4:125808478-125808479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573376419	chr4:125808494-125808495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149333959	chr4:125808582-125808583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536438093	chr4:125808620-125808621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555287422	chr4:125808635-125808636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369369900	chr4:125808654-125808655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186204748	chr4:125808668-125808669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532583110	chr4:125808811-125808812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58752358	chr4:125808864-125808865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562841427	chr4:125808873-125808874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190621868	chr4:125808889-125808890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548580067	chr4:125808910-125808911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143593532	chr4:125808922-125808923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370548349	chr4:125808949-125808950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528202662	chr4:125808956-125808957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371636456	chr4:125809010-125809011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs73845819	chr4:125809013-125809014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138127945	chr4:125809014-125809015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75663450	chr4:125809016-125809017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557262188	chr4:125809018-125809019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569182800	chr4:125809057-125809058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575581762	chr4:125809069-125809070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143583765	chr4:125809080-125809081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182884822	chr4:125809107-125809108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573240695	chr4:125809150-125809151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534338255	chr4:125809155-125809156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544212022	chr4:125809191-125809192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188006500	chr4:125809230-125809231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367779426	chr4:125809259-125809260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577416158	chr4:125809285-125809286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs72685805	chr4:125809288-125809289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6857392	chr4:125809289-125809290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192815119	chr4:125809315-125809316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574797431	chr4:125809333-125809334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542080176	chr4:125809404-125809405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182648705	chr4:125809407-125809408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528051493	chr4:125809411-125809412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125798200-125820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125807800-125814000	Weak transcription	Gastric	stomach
3	chr4:125808200-125808600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:125808200-125809400	Enhancers	Hela-S3	cervix
5	chr4:125808400-125808600	Enhancers	Lung	lung
6	chr4:125811400-125812200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:125811400-125812200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:125811400-125812400	Enhancers	NHDF-Ad	bronchial
9	chr4:125811400-125812600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:125820800-125821600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:125820800-125821600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:125820800-125821600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:125820800-125821600	Enhancers	HMEC	breast
14	chr4:125820800-125822000	Enhancers	NHEK	skin
15	chr4:125821200-125821400	Enhancers	Fetal Muscle Leg	muscle
16	chr4:125821600-125824600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:125821600-125824800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:125821600-125824800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:125821600-125824800	Weak transcription	HMEC	breast
20	chr4:125822000-125822800	Enhancers	Fetal Kidney	kidney
21	chr4:125822000-125824800	Weak transcription	NHEK	skin
22	chr4:125822400-125824800	Enhancers	Hela-S3	cervix
23	chr4:125822600-125823800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:125822800-125823400	Weak transcription	Fetal Kidney	kidney
25	chr4:125822800-125824200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:125823200-125823800	Enhancers	Fetal Muscle Leg	muscle
27	chr4:125823200-125824000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:125823200-125824800	Enhancers	Fetal Heart	heart
29	chr4:125823200-125824800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:125823400-125823600	Enhancers	Colon Smooth Muscle	Colon
31	chr4:125823400-125823600	Enhancers	Fetal Kidney	kidney
32	chr4:125823400-125823600	Enhancers	Fetal Stomach	stomach
33	chr4:125823400-125823800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:125823400-125823800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:125823400-125823800	Enhancers	Psoas Muscle	Psoas
36	chr4:125823400-125823800	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:125823400-125824000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr4:125823400-125824200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:125823400-125824200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:125823400-125824800	Enhancers	HSMMtube	muscle
41	chr4:125823400-125825800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:125823600-125823800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:125823600-125823800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:125823600-125823800	Enhancers	Fetal Lung	lung
45	chr4:125823600-125823800	Enhancers	Pancreas	Pancrea
46	chr4:125823600-125824200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:125823600-125824200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:125823600-125824800	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:125823600-125824800	Weak transcription	Fetal Kidney	kidney
50	chr4:125823800-125824800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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