Variant report

Variant	nsv879912
Chromosome Location	chr4:127706053-127775563
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:127731463..127733823-chr4:127736034..127738057,2	K562	blood:
2	chr4:127694347..127698453-chr4:127713165..127717264,5	K562	blood:
3	chr4:127771841..127773556-chr4:127876449..127879979,3	K562	blood:
4	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:
5	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
6	chr4:127761402..127763975-chr4:127765998..127768528,2	K562	blood:
7	chr4:127695737..127697601-chr4:127770299..127773125,2	K562	blood:
8	chr4:127748775..127750518-chr4:127761705..127763347,2	K562	blood:
9	chr4:127740793..127742611-chr4:127770185..127771905,2	K562	blood:
10	chr4:127716621..127718255-chr4:127771445..127774248,2	K562	blood:
11	chr4:127761821..127763813-chr4:127877198..127878709,2	K562	blood:
12	chr4:127724830..127727787-chr4:127727865..127729451,2	K562	blood:
13	chr4:127731507..127733827-chr4:127738562..127741245,2	K562	blood:
14	chr4:127753877..127756551-chr4:127761614..127765337,3	K562	blood:
15	chr4:127699055..127701009-chr4:127763669..127766462,2	K562	blood:
16	chr4:127764319..127766522-chr4:127767801..127769304,2	K562	blood:
17	chr4:127708913..127710859-chr4:127711115..127713676,2	K562	blood:
18	chr4:127655557..127658334-chr4:127703330..127706969,3	K562	blood:
19	chr4:127731463..127733823-chr4:127736034..127738057,2	K562	blood:
20	chr4:127675932..127677470-chr4:127709350..127712116,2	K562	blood:
21	chr4:127740793..127742611-chr4:127770185..127771905,2	K562	blood:
22	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:
23	chr4:127748775..127750518-chr4:127761705..127763347,2	K562	blood:
24	chr4:127656968..127658978-chr4:127715572..127717474,3	K562	blood:
25	chr4:127712561..127715438-chr4:127723016..127726420,3	K562	blood:
26	chr4:127753877..127756551-chr4:127761614..127765337,3	K562	blood:
27	chr4:127724830..127727787-chr4:127727865..127729451,2	K562	blood:
28	chr4:127718291..127720772-chr4:127873279..127876126,2	K562	blood:
29	chr4:127722324..127726396-chr4:127876150..127878934,3	K562	blood:
30	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
31	chr4:127694329..127698868-chr4:127713362..127717264,4	K562	blood:
32	chr4:127765926..127767639-chr4:127769595..127772371,2	K562	blood:
33	chr4:127771990..127773680-chr4:127776900..127779323,2	K562	blood:
34	chr4:127761402..127763975-chr4:127765998..127768528,2	K562	blood:
35	chr4:127764319..127766522-chr4:127767801..127769304,2	K562	blood:
36	chr4:127708913..127710859-chr4:127711115..127713676,2	K562	blood:
37	chr4:127716621..127718255-chr4:127771445..127774248,2	K562	blood:
38	chr4:127712561..127715438-chr4:127723016..127726420,3	K562	blood:
39	chr4:127743580..127745854-chr4:127762876..127765537,2	K562	blood:
40	chr4:127765926..127767639-chr4:127769595..127772371,2	K562	blood:
41	chr4:127743580..127745854-chr4:127762876..127765537,2	K562	blood:
42	chr4:127731507..127733827-chr4:127738562..127741245,2	K562	blood:
43	chr4:127699715..127702896-chr4:127704901..127707141,5	K562	blood:
44	chr1:194308962..194311330-chr4:127715408..127718280,2	MCF-7	breast:

No data

Extended variants
information (count: 2649 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2649 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373964542	chr4:127706053-127706054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147874444	chr4:127706055-127706056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141504019	chr4:127706123-127706124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559794440	chr4:127706318-127706319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527425288	chr4:127706350-127706351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370126549	chr4:127706428-127706429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545391414	chr4:127706555-127706556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115465750	chr4:127706635-127706636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183434443	chr4:127706647-127706648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148265797	chr4:127706673-127706674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6818424	chr4:127706683-127706684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369344623	chr4:127706686-127706687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141268398	chr4:127706715-127706716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548042271	chr4:127706753-127706754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200910089	chr4:127706781-127706782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552511245	chr4:127706782-127706783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566171264	chr4:127706795-127706796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539989310	chr4:127706859-127706860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558137895	chr4:127706958-127706959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570043431	chr4:127706971-127706972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78250605	chr4:127706980-127706981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560058980	chr4:127706982-127706983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528820813	chr4:127707026-127707027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79748898	chr4:127707034-127707035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574671715	chr4:127707050-127707051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187155264	chr4:127707068-127707069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553597285	chr4:127707290-127707291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571761827	chr4:127707305-127707306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545502518	chr4:127707308-127707309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563703490	chr4:127707309-127707310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531357561	chr4:127707361-127707362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543077804	chr4:127707370-127707371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150346351	chr4:127707376-127707377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529598162	chr4:127707386-127707387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113563660	chr4:127707398-127707399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369011128	chr4:127707401-127707402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73848011	chr4:127707402-127707403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs137998773	chr4:127707412-127707413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551923276	chr4:127707414-127707415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530516150	chr4:127707422-127707423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191932660	chr4:127707438-127707439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537431165	chr4:127707442-127707443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555513081	chr4:127707449-127707450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13111309	chr4:127707485-127707486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535364469	chr4:127707666-127707667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553509363	chr4:127707766-127707767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570459592	chr4:127707881-127707882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539594481	chr4:127707883-127707884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545462678	chr4:127707925-127707926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550050995	chr4:127707926-127707927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127698600-127715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:127702000-127706200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:127704000-127706200	Weak transcription	K562	blood
4	chr4:127706000-127706400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:127706000-127706400	Enhancers	NHDF-Ad	bronchial
6	chr4:127706000-127706800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:127706000-127706800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:127706000-127706800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:127706000-127706800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:127706000-127706800	Enhancers	HMEC	breast
11	chr4:127706000-127707000	Enhancers	NHEK	skin
12	chr4:127706200-127706600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:127706200-127706600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:127706200-127706600	Enhancers	K562	blood
15	chr4:127706600-127711800	Weak transcription	K562	blood
16	chr4:127706800-127711600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:127711600-127712200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:127711800-127712400	Enhancers	K562	blood
19	chr4:127712200-127715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:127712200-127720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:127712400-127715200	Weak transcription	K562	blood
22	chr4:127714400-127715800	Enhancers	Fetal Heart	heart
23	chr4:127714600-127716000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:127715000-127715400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:127715200-127715600	Enhancers	K562	blood
26	chr4:127715200-127715800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:127715200-127715800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:127715200-127715800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:127715200-127716000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:127715200-127716000	Enhancers	HMEC	breast
31	chr4:127715200-127716200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:127715200-127716400	Enhancers	NHEK	skin
33	chr4:127715400-127715800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:127715600-127715800	Flanking Active TSS	K562	blood
35	chr4:127715600-127720600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:127715800-127716000	Enhancers	K562	blood
37	chr4:127715800-127720400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:127715800-127720600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:127715800-127721000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:127715800-127721000	Weak transcription	Fetal Heart	heart
41	chr4:127716000-127716200	Flanking Active TSS	K562	blood
42	chr4:127716000-127756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:127716200-127716400	Enhancers	K562	blood
44	chr4:127716200-127721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:127716400-127718000	Weak transcription	K562	blood
46	chr4:127716400-127721000	Weak transcription	NHEK	skin
47	chr4:127718000-127718800	Strong transcription	K562	blood
48	chr4:127718800-127721000	Weak transcription	K562	blood
49	chr4:127719600-127720000	Enhancers	Fetal Lung	lung
50	chr4:127720000-127720400	Weak transcription	Fetal Lung	lung

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