Variant report

Variant	nsv4504
Chromosome Location	chr4:129777368-129803959
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129730562..129732301-chr4:129775269..129777728,2	K562	blood:
2	chr4:129729294..129734540-chr4:129782960..129791658,9	K562	blood:
3	chr4:129784722..129788908-chr4:129789150..129792648,4	K562	blood:
4	chr4:129495601..129496471-chr4:129784448..129785345,3	K562	blood:
5	chr4:129495559..129496404-chr4:129784372..129785130,3	MCF-7	breast:
6	chr4:129802100..129804907-chr4:129805391..129807043,2	K562	blood:
7	chr4:129784722..129788908-chr4:129789150..129792648,4	K562	blood:
8	chr4:129486483..129487185-chr4:129784609..129785425,2	MCF-7	breast:
9	chr4:129787325..129790041-chr4:129799398..129801047,2	K562	blood:
10	chr4:129774305..129776412-chr4:129777976..129779919,2	K562	blood:
11	chr4:129731505..129733452-chr4:129799174..129801929,2	MCF-7	breast:
12	chr4:129725702..129726480-chr4:129789353..129790148,2	MCF-7	breast:
13	chr4:129729198..129732287-chr4:129784290..129787717,5	K562	blood:
14	chr4:129348761..129349614-chr4:129784409..129785296,3	MCF-7	breast:
15	chr4:129375124..129376026-chr4:129784426..129785119,2	MCF-7	breast:
16	chr4:129787325..129790041-chr4:129799398..129801047,2	K562	blood:
17	chr4:129770901..129772590-chr4:129787099..129788677,2	K562	blood:
18	chr4:129798920..129801366-chr4:129805840..129808673,2	K562	blood:
19	chr4:129796835..129799070-chr4:129823245..129825174,2	K562	blood:
20	chr4:129792576..129794412-chr4:129795148..129798091,2	MCF-7	breast:
21	chr4:129729755..129733795-chr4:129783264..129786218,5	MCF-7	breast:
22	chr4:129486871..129489829-chr4:129782805..129785623,2	K562	blood:
23	chr4:129772388..129774921-chr4:129778989..129781160,2	MCF-7	breast:
24	chr4:129731707..129733254-chr4:129789500..129791100,2	MCF-7	breast:
25	chr4:129732016..129733966-chr4:129800387..129802773,2	K562	blood:
26	chr4:129770197..129772164-chr4:129783210..129785874,2	K562	blood:
27	chr4:129112511..129113107-chr4:129784791..129785303,2	K562	blood:
28	chr4:129483813..129486118-chr4:129786642..129788490,2	MCF-7	breast:
29	chr4:129730756..129732301-chr4:129776228..129778833,2	K562	blood:
30	chr4:129792576..129794412-chr4:129795148..129798091,2	MCF-7	breast:
31	chr4:129731868..129734211-chr4:129779413..129782328,2	K562	blood:
32	chr4:129759776..129761947-chr4:129777321..129779431,2	K562	blood:

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PHF17	hsa-miR-124-3p	chr4:129796320-129796339
2	PHF17	hsa-miR-124-3p	chr4:129795562-129795568
3	PHF17	hsa-miR-145-5p	chr4:129784899-129784923
4	PHF17	hsa-miR-124-3p	chr4:129795549-129795568
5	PHF17	hsa-miR-155-5p	chr4:129794674-129794681
6	PHF17	hsa-miR-21-5p	chr4:129794503-129794525
7	PHF17	hsa-miR-145-5p	chr4:129784570-129784593
8	PHF17	hsa-miR-155-5p	chr4:129794659-129794681
9	PHF17	hsa-miR-124-3p	chr4:129796332-129796338

Variant related genes	Relation type
ENSG00000251432	chromatin interactions
ENSG00000077684	chromatin interactions

Extended variants
information (count: 972 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:972 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188423778	chr4:129777384-129777385	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192896449	chr4:129777413-129777414	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571802478	chr4:129777424-129777425	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs17013825	chr4:129777469-129777470	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75938349	chr4:129777475-129777476	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182852322	chr4:129777503-129777504	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187536221	chr4:129777552-129777553	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192399615	chr4:129777557-129777558	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573358945	chr4:129777567-129777568	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540454544	chr4:129777635-129777636	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17013827	chr4:129777671-129777672	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570455350	chr4:129777681-129777682	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531106514	chr4:129777741-129777742	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374305998	chr4:129777800-129777801	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140917716	chr4:129777850-129777851	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562460673	chr4:129777870-129777871	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34932450	chr4:129777882-129777883	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372730163	chr4:129777902-129777903	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551295039	chr4:129777929-129777930	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529670751	chr4:129777980-129777981	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143115935	chr4:129778004-129778005	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs4975274	chr4:129778076-129778077	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs184992109	chr4:129778082-129778083	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189117402	chr4:129778089-129778090	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533373652	chr4:129778115-129778116	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148240566	chr4:129778195-129778196	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532603138	chr4:129778222-129778223	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs62317924	chr4:129778232-129778233	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536272118	chr4:129778236-129778237	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546257677	chr4:129778237-129778238	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192800955	chr4:129778370-129778371	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567087690	chr4:129778388-129778389	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114387632	chr4:129778393-129778394	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370607222	chr4:129778450-129778451	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372979071	chr4:129778457-129778458	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140331727	chr4:129778459-129778460	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375950317	chr4:129778483-129778484	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201538651	chr4:129778484-129778485	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs17013835	chr4:129778510-129778511	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200666132	chr4:129778552-129778553	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373639332	chr4:129778620-129778621	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553259649	chr4:129778650-129778651	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201334089	chr4:129778651-129778652	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574351118	chr4:129778687-129778688	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs367951774	chr4:129778693-129778694	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115531380	chr4:129778696-129778697	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184765856	chr4:129778745-129778746	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114570617	chr4:129778806-129778807	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546123335	chr4:129778823-129778824	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564231571	chr4:129778843-129778844	Strong transcription Weak transcription Genic enhancers	n/a	n/a	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:129760400-129783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:129761600-129779400	Strong transcription	Fetal Stomach	stomach
5	chr4:129761600-129782000	Strong transcription	Fetal Intestine Small	intestine
6	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
7	chr4:129762000-129782800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:129763000-129785800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:129763000-129787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:129763200-129784000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:129763200-129784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:129763400-129784200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:129763600-129777400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:129763600-129780400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr4:129763600-129786600	Strong transcription	Fetal Intestine Large	intestine
19	chr4:129763800-129780400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:129763800-129780400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr4:129763800-129783400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:129763800-129784000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr4:129763800-129784200	Strong transcription	Brain Germinal Matrix	brain
24	chr4:129764000-129784000	Strong transcription	Fetal Brain Female	brain
25	chr4:129764800-129779600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:129766600-129780200	Strong transcription	Adipose Nuclei	Adipose
27	chr4:129766600-129780200	Strong transcription	Lung	lung
28	chr4:129766600-129783400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:129766600-129784200	Strong transcription	HepG2	liver
30	chr4:129766800-129779400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr4:129767200-129784400	Strong transcription	Aorta	Aorta
32	chr4:129767400-129783800	Strong transcription	Brain Angular Gyrus	brain
33	chr4:129767400-129784000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:129767600-129779400	Strong transcription	Rectal Smooth Muscle	rectum
35	chr4:129767600-129780200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr4:129767800-129784200	Strong transcription	Liver	Liver
37	chr4:129768000-129780400	Strong transcription	Gastric	stomach
38	chr4:129768000-129784000	Strong transcription	Brain Anterior Caudate	brain
39	chr4:129768600-129784000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:129768800-129778800	Weak transcription	Psoas Muscle	Psoas
41	chr4:129768800-129779200	Strong transcription	Left Ventricle	heart
42	chr4:129768800-129779400	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:129768800-129780200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:129768800-129784400	Weak transcription	Stomach Mucosa	stomach
45	chr4:129769000-129778400	Weak transcription	Right Atrium	heart
46	chr4:129769200-129778800	Strong transcription	Pancreas	Pancrea
47	chr4:129769200-129779000	Strong transcription	Right Ventricle	heart
48	chr4:129769200-129783600	Strong transcription	A549	lung
49	chr4:129769800-129784200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:129770600-129784000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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