Variant report

Variant	nsv595688
Chromosome Location	chr4:151776717-151804857
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151803844..151805501-chr4:151810572..151812998,2	K562	blood:
2	chr4:151772296..151775065-chr4:151776921..151778831,4	K562	blood:
3	chr11:65274144..65274967-chr4:151783705..151784206,2	HCT-116	colon:
4	chr4:151796077..151798046-chr4:151803674..151805775,2	K562	blood:
5	chr4:151784993..151786958-chr4:151786960..151788499,2	K562	blood:
6	chr4:151784993..151786958-chr4:151786960..151788499,2	K562	blood:
7	chr4:151763930..151765590-chr4:151781369..151784102,2	K562	blood:
8	chr4:151796468..151798737-chr4:152018888..152021048,2	MCF-7	breast:
9	chr4:151796077..151798046-chr4:151803674..151805775,2	K562	blood:
10	chr4:150901665..150902664-chr4:151788283..151788927,3	K562	blood:
11	chr4:151218929..151219669-chr4:151787911..151788691,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145425	chromatin interactions

Extended variants
information (count: 979 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:979 , 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	rs1201204	chr4:151776717-151776718	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182591818	chr4:151776755-151776756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545427355	chr4:151776764-151776765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528703120	chr4:151776765-151776766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185264177	chr4:151776854-151776855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376072929	chr4:151776855-151776856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565133287	chr4:151776886-151776887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146785472	chr4:151776919-151776920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116537662	chr4:151776959-151776960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561132032	chr4:151777009-151777010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373743898	chr4:151777050-151777051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373193846	chr4:151777069-151777070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190858305	chr4:151777175-151777176	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13112801	chr4:151777199-151777200	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575903397	chr4:151777273-151777274	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569740996	chr4:151777283-151777284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538343658	chr4:151777306-151777307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552194853	chr4:151777331-151777332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565311277	chr4:151777420-151777421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183409944	chr4:151777446-151777447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571700649	chr4:151777488-151777489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554067736	chr4:151777515-151777516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539130410	chr4:151777518-151777519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369880084	chr4:151777536-151777537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536459113	chr4:151777545-151777546	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557139110	chr4:151777574-151777575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187294643	chr4:151777584-151777585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376545733	chr4:151777681-151777682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72961873	chr4:151777726-151777727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373294794	chr4:151777728-151777729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79326773	chr4:151777780-151777781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565315710	chr4:151777793-151777794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368392170	chr4:151778024-151778025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572488101	chr4:151778041-151778042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541408242	chr4:151778050-151778051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561168835	chr4:151778100-151778101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150417190	chr4:151778136-151778137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116446144	chr4:151778154-151778155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563334313	chr4:151778164-151778165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532259903	chr4:151778165-151778166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11937349	chr4:151778183-151778184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551968719	chr4:151778276-151778277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565411735	chr4:151778311-151778312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116214375	chr4:151778354-151778355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192947300	chr4:151778437-151778438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79680228	chr4:151778444-151778445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200790961	chr4:151778478-151778479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149182998	chr4:151778505-151778506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576545238	chr4:151778603-151778604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34795115	chr4:151778664-151778665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151726600-151780400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:151743800-151795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:151745000-151780600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:151748400-151795600	Weak transcription	Brain Angular Gyrus	brain
5	chr4:151749800-151779800	Weak transcription	Aorta	Aorta
6	chr4:151749800-151780800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:151749800-151787800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:151749800-151795400	Weak transcription	Right Ventricle	heart
9	chr4:151749800-151795600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:151749800-151795600	Weak transcription	Gastric	stomach
11	chr4:151749800-151806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:151750200-151824200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:151750400-151795800	Weak transcription	Fetal Stomach	stomach
14	chr4:151750800-151795600	Weak transcription	Thymus	Thymus
15	chr4:151754200-151795400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:151759600-151784200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:151761400-151780000	Weak transcription	Fetal Lung	lung
18	chr4:151761800-151779200	Weak transcription	HSMMtube	muscle
19	chr4:151761800-151794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:151761800-151795600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:151762200-151795600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:151763800-151823800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:151764400-151795400	Weak transcription	Fetal Intestine Large	intestine
24	chr4:151764400-151795400	Weak transcription	Pancreas	Pancrea
25	chr4:151767600-151806600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:151769800-151782200	Weak transcription	Fetal Intestine Small	intestine
27	chr4:151770800-151790600	Weak transcription	HUVEC	blood vessel
28	chr4:151770800-151795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:151771000-151777200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:151771000-151795400	Weak transcription	HMEC	breast
31	chr4:151771000-151797400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr4:151772600-151806400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:151773200-151794600	Weak transcription	Placenta	Placenta
34	chr4:151773400-151784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:151773400-151795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:151773600-151791600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:151773600-151797400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:151773600-151813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:151773600-151813400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:151773800-151776800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:151773800-151777400	Weak transcription	NHLF	lung
42	chr4:151773800-151777600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:151773800-151791000	Weak transcription	Liver	Liver
44	chr4:151773800-151791600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:151773800-151795600	Weak transcription	GM12878-XiMat	blood
46	chr4:151773800-151800800	Weak transcription	Hela-S3	cervix
47	chr4:151773800-151813800	Weak transcription	Fetal Kidney	kidney
48	chr4:151773800-151824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:151774000-151777000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:151774000-151777000	Weak transcription	Monocytes-CD14+_RO01746	blood

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