Variant report

Variant	nsv879930
Chromosome Location	chr4:129529604-129598078
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:28)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129492240..129493898-chr4:129590905..129593263,2	K562	blood:
2	chr4:129574425..129576469-chr4:129577785..129580634,2	K562	blood:
3	chr4:129574089..129575980-chr4:129583598..129586071,2	K562	blood:
4	chr4:129572206..129574632-chr4:129579699..129582483,2	K562	blood:
5	chr4:129571215..129573706-chr4:129580983..129582880,2	K562	blood:
6	chr4:129523297..129525296-chr4:129529319..129531582,3	K562	blood:
7	chr4:129574425..129576469-chr4:129577785..129580634,2	K562	blood:
8	chr4:129596715..129598879-chr4:129602421..129605224,2	K562	blood:
9	chr4:129572319..129577969-chr4:129731024..129735467,5	K562	blood:
10	chr4:129575777..129578611-chr4:129583554..129585727,2	MCF-7	breast:
11	chr4:129572206..129574632-chr4:129579699..129582483,2	K562	blood:
12	chr4:129529105..129531409-chr4:129533085..129536826,3	K562	blood:
13	chr4:129522827..129528371-chr4:129529319..129533592,6	K562	blood:
14	chr4:129529105..129531409-chr4:129533085..129536826,3	K562	blood:
15	chr4:129589038..129591001-chr4:129607598..129609716,2	K562	blood:
16	chr4:129571125..129573819-chr4:129732774..129735421,2	K562	blood:
17	chr4:129560046..129562849-chr4:129729616..129732326,2	K562	blood:
18	chr4:129596715..129599665-chr4:129602357..129605224,2	K562	blood:
19	chr4:129495515..129496021-chr4:129565597..129566126,2	K562	blood:
20	chr4:129585292..129589686-chr4:129730781..129734691,3	K562	blood:
21	chr4:129585292..129588923-chr4:129730781..129734121,3	K562	blood:
22	chr4:129585933..129588773-chr4:129593125..129594760,2	K562	blood:
23	chr4:129574089..129575980-chr4:129583598..129586071,2	K562	blood:
24	chr4:129560046..129561977-chr4:129727219..129731116,3	K562	blood:
25	chr4:129571215..129573706-chr4:129580983..129582880,2	K562	blood:
26	chr4:129585933..129588773-chr4:129593125..129594760,2	K562	blood:
27	chr4:129575777..129578611-chr4:129583554..129585727,2	MCF-7	breast:
28	chr4:129592473..129594114-chr4:129599834..129601993,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF17-1	chr4:129581630-129583069	NONHSAT098282
2	lnc-PHF17-5	chr4:129574329-129574707	NONHSAT098278
3	lnc-PHF17-1	chr4:129575030-129575131	XLOC_003686
4	lnc-PHF17-1	chr4:129575029-129575131	NONHSAT098282
5	lnc-PHF17-1	chr4:129581630-129581773	FPKM1_group_24090_transcript_1
6	lnc-PHF17-4	chr4:129555286-129555455	NONHSAT098281
7	lnc-PHF17-3	chr4:129586373-129587699	NONHSAT098284
8	lnc-PHF17-1	chr4:129581631-129581852	XLOC_003686
9	lnc-PHF17-1	chr4:129575029-129575131	FPKM1_group_24090_transcript_1
10	lnc-PHF17-4	chr4:129556156-129565822	NONHSAT098281
11	lnc-PHF17-3	chr4:129591231-129591288	NONHSAT098284
12	lnc-PHF17-4	chr4:129548531-129553873	NONHSAT098281
13	lnc-PHF17-5	chr4:129529462-129530030	NONHSAT098278
14	lnc-PHF17-5	chr4:129530052-129530120	NONHSAT098278

No data

Variant related genes	Relation type
ENSG00000077684	chromatin interactions
SMAD5	miRNA target sites
SMAD4	miRNA target sites

Extended variants
information (count: 2794 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2794 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1216412	chr4:129529604-129529605	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574179530	chr4:129529629-129529630	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs569291550	chr4:129529640-129529641	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs115609647	chr4:129529646-129529647	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs80310072	chr4:129529698-129529699	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs532938143	chr4:129529752-129529753	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs112049083	chr4:129529755-129529756	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs78853320	chr4:129529756-129529757	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs546199349	chr4:129529758-129529759	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs202134151	chr4:129529759-129529760	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs397750642	chr4:129529771-129529772	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs79400932	chr4:129529772-129529773	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs563532391	chr4:129529776-129529777	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs536758022	chr4:129529800-129529801	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs565556401	chr4:129529865-129529866	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs549168641	chr4:129529879-129529880	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs577174909	chr4:129529932-129529933	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs567442322	chr4:129530040-129530041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145678833	chr4:129530078-129530079	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs114399069	chr4:129530104-129530105	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1216413	chr4:129530116-129530117	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187835282	chr4:129530136-129530137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375035962	chr4:129530161-129530162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116398007	chr4:129530162-129530163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191814124	chr4:129530164-129530165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555052633	chr4:129530169-129530170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555821092	chr4:129530192-129530193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574165914	chr4:129530210-129530211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533603195	chr4:129530250-129530251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541309341	chr4:129530280-129530281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55714837	chr4:129530288-129530289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201036439	chr4:129530294-129530295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372166170	chr4:129530412-129530413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552983745	chr4:129530413-129530414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548969469	chr4:129530468-129530469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143127086	chr4:129530498-129530499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566885935	chr4:129530569-129530570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141553716	chr4:129530572-129530573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147053026	chr4:129530600-129530601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530558303	chr4:129530619-129530620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530237970	chr4:129530638-129530639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556076605	chr4:129530669-129530670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115657061	chr4:129530725-129530726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138408529	chr4:129530741-129530742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543585166	chr4:129530843-129530844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1216414	chr4:129530900-129530901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566131543	chr4:129530940-129530941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182803141	chr4:129530979-129530980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551489808	chr4:129531024-129531025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62319762	chr4:129531032-129531033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129522600-129537600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:129522800-129536200	Weak transcription	Gastric	stomach
3	chr4:129524000-129531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:129527600-129531800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:129527800-129550400	Weak transcription	Pancreas	Pancrea
6	chr4:129528000-129530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:129529000-129529800	Enhancers	K562	blood
8	chr4:129529600-129529800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:129531400-129532000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:129533000-129533200	Enhancers	Lung	lung
11	chr4:129536000-129536400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:129536000-129536600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:129536000-129536600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:129536200-129536600	Enhancers	Gastric	stomach
15	chr4:129536200-129536600	Active TSS	Spleen	Spleen
16	chr4:129536600-129556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:129537600-129537800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:129540600-129545800	Weak transcription	Psoas Muscle	Psoas
19	chr4:129542000-129542200	Enhancers	Fetal Intestine Small	intestine
20	chr4:129542200-129542400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr4:129542200-129556600	Weak transcription	Fetal Intestine Small	intestine
22	chr4:129542600-129544600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:129544400-129545200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:129544400-129546000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:129544600-129544800	Enhancers	Right Atrium	heart
26	chr4:129544600-129545000	Enhancers	Colonic Mucosa	Colon
27	chr4:129544600-129545000	Enhancers	Fetal Muscle Leg	muscle
28	chr4:129544600-129545000	Enhancers	Gastric	stomach
29	chr4:129544600-129545000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr4:129544600-129545200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr4:129544600-129545600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:129544800-129556400	Weak transcription	Right Atrium	heart
33	chr4:129546000-129552000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:129549400-129549800	Enhancers	HMEC	breast
35	chr4:129550400-129551400	Enhancers	Pancreas	Pancrea
36	chr4:129551400-129555600	Weak transcription	Pancreas	Pancrea
37	chr4:129551600-129552000	Enhancers	Stomach Mucosa	stomach
38	chr4:129551600-129552400	Enhancers	K562	blood
39	chr4:129551600-129552600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:129551600-129552600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr4:129551600-129552800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:129551600-129554000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:129551600-129554000	Enhancers	A549	lung
44	chr4:129551800-129552000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:129551800-129552200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:129551800-129552400	Enhancers	Colon Smooth Muscle	Colon
47	chr4:129551800-129552400	Enhancers	Fetal Lung	lung
48	chr4:129552000-129552200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:129552000-129552200	Enhancers	Brain Hippocampus Middle	brain
50	chr4:129552000-129552200	Enhancers	Fetal Brain Female	brain

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