Variant report

Variant	nsv818269
Chromosome Location	chr4:127700428-127727154
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:
2	chr4:127675932..127677470-chr4:127709350..127712116,2	K562	blood:
3	chr4:127716621..127718255-chr4:127771445..127774248,2	K562	blood:
4	chr4:127718291..127720772-chr4:127873279..127876126,2	K562	blood:
5	chr4:127708913..127710859-chr4:127711115..127713676,2	K562	blood:
6	chr4:127699715..127702896-chr4:127704901..127707141,5	K562	blood:
7	chr4:127687681..127689418-chr4:127698728..127701287,2	K562	blood:
8	chr3:64009115..64009647-chr4:127704492..127705025,2	MCF-7	breast:
9	chr4:127722324..127726396-chr4:127876150..127878934,3	K562	blood:
10	chr4:127656968..127658978-chr4:127715572..127717474,3	K562	blood:
11	chr4:127628211..127630897-chr4:127699416..127701200,2	K562	blood:
12	chr4:127699055..127701009-chr4:127763669..127766462,2	K562	blood:
13	chr4:127708913..127710859-chr4:127711115..127713676,2	K562	blood:
14	chr4:127699741..127703647-chr4:127875173..127879234,5	K562	blood:
15	chr4:127712561..127715438-chr4:127723016..127726420,3	K562	blood:
16	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:
17	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
18	chr4:127694347..127698453-chr4:127713165..127717264,5	K562	blood:
19	chr4:127724830..127727787-chr4:127727865..127729451,2	K562	blood:
20	chr4:127699281..127701495-chr4:128289836..128291541,2	K562	blood:
21	chr4:127655557..127658334-chr4:127703330..127706969,3	K562	blood:
22	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
23	chr4:127694329..127698868-chr4:127713362..127717264,4	K562	blood:
24	chr4:127712561..127715438-chr4:127723016..127726420,3	K562	blood:
25	chr4:127699715..127702896-chr4:127704901..127707141,5	K562	blood:
26	chr1:194308962..194311330-chr4:127715408..127718280,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163636	chromatin interactions

Extended variants
information (count: 881 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7688921	chr4:127700428-127700429	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372275229	chr4:127700447-127700448	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs533664502	chr4:127700484-127700485	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545719738	chr4:127700505-127700506	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs13134708	chr4:127700516-127700517	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188026034	chr4:127700518-127700519	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549339177	chr4:127700549-127700550	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567731743	chr4:127700606-127700607	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528617584	chr4:127700674-127700675	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191724238	chr4:127700717-127700718	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs367899287	chr4:127700747-127700748	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376154158	chr4:127700749-127700750	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539305150	chr4:127700785-127700786	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs551281080	chr4:127700849-127700850	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569488793	chr4:127700881-127700882	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537231018	chr4:127700882-127700883	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555308876	chr4:127700958-127700959	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112519346	chr4:127701020-127701021	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371902759	chr4:127701024-127701025	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs397801762	chr4:127701025-127701026	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570236533	chr4:127701034-127701035	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146305306	chr4:127701045-127701046	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371372665	chr4:127701050-127701051	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184277338	chr4:127701111-127701112	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552958565	chr4:127701123-127701124	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577722257	chr4:127701169-127701170	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs545689043	chr4:127701197-127701198	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs138225473	chr4:127701218-127701219	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs75351104	chr4:127701226-127701227	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543195137	chr4:127701247-127701248	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561368169	chr4:127701251-127701252	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528537048	chr4:127701255-127701256	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546785734	chr4:127701258-127701259	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564898671	chr4:127701298-127701299	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs35742866	chr4:127701328-127701329	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374685475	chr4:127701333-127701334	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs532395140	chr4:127701339-127701340	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369927402	chr4:127701341-127701342	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs188962818	chr4:127701411-127701412	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs550591706	chr4:127701502-127701503	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs35911845	chr4:127701509-127701510	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs202046969	chr4:127701510-127701511	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549158110	chr4:127701551-127701552	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs567352225	chr4:127701561-127701562	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs11945977	chr4:127701583-127701584	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565709661	chr4:127701602-127701603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553126133	chr4:127701633-127701634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61613462	chr4:127701668-127701669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538622451	chr4:127701672-127701673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6828816	chr4:127701679-127701680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127698200-127700600	Weak transcription	HSMMtube	muscle
2	chr4:127698600-127715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:127699400-127701000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:127699600-127700600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:127699600-127700600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:127699600-127700600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:127699800-127700600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:127700000-127700600	Enhancers	NHDF-Ad	bronchial
9	chr4:127700000-127706000	Weak transcription	HMEC	breast
10	chr4:127700200-127701000	Active TSS	K562	blood
11	chr4:127700400-127700600	Enhancers	HSMM	muscle
12	chr4:127700400-127701400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:127700600-127701000	Active TSS	Hela-S3	cervix
14	chr4:127700600-127701200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:127700600-127701200	Active TSS	Adipose Nuclei	Adipose
16	chr4:127700600-127701400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:127700600-127701400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr4:127700600-127701400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:127700600-127701400	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr4:127700600-127701400	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr4:127700600-127701400	Flanking Active TSS	HSMM	muscle
22	chr4:127700600-127701400	Active TSS	HSMMtube	muscle
23	chr4:127700600-127701600	Flanking Active TSS	NHDF-Ad	bronchial
24	chr4:127701000-127701400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:127701000-127701400	Flanking Active TSS	K562	blood
26	chr4:127701000-127706000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:127701200-127701400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:127701400-127701600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:127701400-127701600	Active TSS	K562	blood
30	chr4:127701400-127701800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:127701400-127702000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:127701600-127703400	Weak transcription	K562	blood
33	chr4:127701600-127706000	Weak transcription	NHDF-Ad	bronchial
34	chr4:127702000-127706200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:127703400-127704000	Enhancers	K562	blood
36	chr4:127704000-127706200	Weak transcription	K562	blood
37	chr4:127706000-127706400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:127706000-127706400	Enhancers	NHDF-Ad	bronchial
39	chr4:127706000-127706800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:127706000-127706800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:127706000-127706800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:127706000-127706800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:127706000-127706800	Enhancers	HMEC	breast
44	chr4:127706000-127707000	Enhancers	NHEK	skin
45	chr4:127706200-127706600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:127706200-127706600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:127706200-127706600	Enhancers	K562	blood
48	chr4:127706600-127711800	Weak transcription	K562	blood
49	chr4:127706800-127711600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:127711600-127712200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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