Variant report

Variant	nsv519852
Chromosome Location	chr4:129527656-129574927
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:16)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129522827..129528371-chr4:129529319..129533592,6	K562	blood:
2	chr4:129529105..129531409-chr4:129533085..129536826,3	K562	blood:
3	chr4:129571215..129573706-chr4:129580983..129582880,2	K562	blood:
4	chr4:129571125..129573819-chr4:129732774..129735421,2	K562	blood:
5	chr4:129521214..129522736-chr4:129525502..129527805,2	K562	blood:
6	chr4:129574425..129576469-chr4:129577785..129580634,2	K562	blood:
7	chr4:129560046..129562849-chr4:129729616..129732326,2	K562	blood:
8	chr4:129560046..129561977-chr4:129727219..129731116,3	K562	blood:
9	chr4:129522827..129528371-chr4:129529319..129533592,6	K562	blood:
10	chr4:129523297..129525296-chr4:129529319..129531582,3	K562	blood:
11	chr4:129495515..129496021-chr4:129565597..129566126,2	K562	blood:
12	chr4:129574089..129575980-chr4:129583598..129586071,2	K562	blood:
13	chr4:129572206..129574632-chr4:129579699..129582483,2	K562	blood:
14	chr4:129572319..129577969-chr4:129731024..129735467,5	K562	blood:
15	chr4:129522356..129525239-chr4:129525901..129529319,3	K562	blood:
16	chr4:129529105..129531409-chr4:129533085..129536826,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF17-4	chr4:129555286-129555455	NONHSAT098281
2	lnc-PHF17-5	chr4:129529462-129530030	NONHSAT098278
3	lnc-PHF17-5	chr4:129574329-129574707	NONHSAT098278
4	lnc-PHF17-5	chr4:129530052-129530120	NONHSAT098278
5	lnc-PHF17-4	chr4:129548531-129553873	NONHSAT098281
6	lnc-PHF17-4	chr4:129556156-129565822	NONHSAT098281

No data

Variant related genes	Relation type
ENSG00000077684	chromatin interactions
ENSG00000248802	chromatin interactions

Extended variants
information (count: 1892 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1892 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1216405	chr4:129527656-129527657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535367281	chr4:129527663-129527664	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs28572645	chr4:129527674-129527675	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs180940562	chr4:129527676-129527677	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147062825	chr4:129527716-129527717	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546026585	chr4:129527719-129527720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549100321	chr4:129527796-129527797	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186162709	chr4:129527835-129527836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189910224	chr4:129527850-129527851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138443503	chr4:129527904-129527905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530143228	chr4:129527919-129527920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4000677	chr4:129527925-129527926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560879571	chr4:129528039-129528040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557671086	chr4:129528055-129528056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144006761	chr4:129528067-129528068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371853581	chr4:129528078-129528079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551148648	chr4:129528100-129528101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558236228	chr4:129528125-129528126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571782340	chr4:129528132-129528133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6826716	chr4:129528156-129528157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181547632	chr4:129528195-129528196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559736590	chr4:129528249-129528250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554443382	chr4:129528250-129528251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186208113	chr4:129528267-129528268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567705056	chr4:129528298-129528299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574720619	chr4:129528299-129528300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191028596	chr4:129528304-129528305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377494748	chr4:129528326-129528327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72289124	chr4:129528327-129528328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35323770	chr4:129528336-129528337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113106240	chr4:129528345-129528346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112606777	chr4:129528346-129528347	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs202139092	chr4:129528347-129528348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200232644	chr4:129528348-129528349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376699719	chr4:129528368-129528369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368974473	chr4:129528371-129528372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369174578	chr4:129528465-129528466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112628633	chr4:129528531-129528532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs41397247	chr4:129528560-129528561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565967835	chr4:129528564-129528565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539218499	chr4:129528566-129528567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376210352	chr4:129528590-129528591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369538940	chr4:129528620-129528621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139961793	chr4:129528681-129528682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539561215	chr4:129528710-129528711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556728318	chr4:129528711-129528712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77721711	chr4:129528719-129528720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563532043	chr4:129528760-129528761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560575496	chr4:129528762-129528763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183546831	chr4:129528764-129528765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Hepatocellular carcinoma	16750200	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129522200-129529600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:129522600-129537600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129522800-129536200	Weak transcription	Gastric	stomach
4	chr4:129523800-129528000	Enhancers	A549	lung
5	chr4:129524000-129531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:129525000-129527800	Enhancers	NHEK	skin
7	chr4:129525000-129528000	Enhancers	Hela-S3	cervix
8	chr4:129525200-129528000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:129525600-129528000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:129526200-129528000	Enhancers	Fetal Heart	heart
11	chr4:129526400-129529000	Weak transcription	K562	blood
12	chr4:129527000-129527800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:129527000-129528000	Enhancers	Osteobl	bone
14	chr4:129527200-129528000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:129527200-129528000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:129527200-129528000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:129527200-129528000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:129527400-129527800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:129527400-129527800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:129527400-129527800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:129527400-129527800	Enhancers	Ovary	ovary
22	chr4:129527400-129527800	Enhancers	Pancreas	Pancrea
23	chr4:129527400-129528000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:129527400-129528000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:129527400-129528000	Enhancers	HMEC	breast
26	chr4:129527400-129528000	Enhancers	HSMM	muscle
27	chr4:129527400-129528000	Enhancers	NH-A	brain
28	chr4:129527400-129528000	Enhancers	NHDF-Ad	bronchial
29	chr4:129527400-129528000	Enhancers	NHLF	lung
30	chr4:129527600-129527800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr4:129527600-129528000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:129527600-129528000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:129527600-129531800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:129527800-129529200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:129527800-129550400	Weak transcription	Pancreas	Pancrea
36	chr4:129528000-129528200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:129528000-129530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:129528200-129528600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:129529000-129529800	Enhancers	K562	blood
40	chr4:129529200-129529400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:129529200-129529600	Enhancers	Spleen	Spleen
42	chr4:129529600-129529800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:129531400-129532000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:129533000-129533200	Enhancers	Lung	lung
45	chr4:129536000-129536400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:129536000-129536600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:129536000-129536600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:129536200-129536600	Enhancers	Gastric	stomach
49	chr4:129536200-129536600	Active TSS	Spleen	Spleen
50	chr4:129536600-129556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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