Variant report

Variant	esv2760836
Chromosome Location	chr4:151854949-151884310
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151881996..151883643-chr4:151936470..151938067,2	MCF-7	breast:
2	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
3	chr4:151881135..151883794-chr4:151886997..151888968,2	MCF-7	breast:
4	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
5	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
6	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
7	chr4:151853140..151855693-chr4:151862227..151864085,2	MCF-7	breast:
8	chr4:151858340..151860343-chr4:151871989..151873498,2	K562	blood:
9	chr4:151856044..151857786-chr4:151866410..151868032,2	MCF-7	breast:
10	chr4:151866579..151869157-chr4:152019961..152022233,2	K562	blood:
11	chr4:151872979..151875947-chr4:151936623..151938393,3	MCF-7	breast:
12	chr1:174358031..174358668-chr4:151874262..151874762,2	MCF-7	breast:
13	chr4:151853140..151855693-chr4:151862227..151864085,2	MCF-7	breast:
14	chr4:151863391..151865111-chr4:151934001..151936984,2	K562	blood:
15	chr4:151858185..151860880-chr4:151862516..151865242,2	K562	blood:
16	chr4:151870335..151873445-chr4:152019879..152022004,3	K562	blood:
17	chr4:151863391..151864945-chr4:151935370..151936984,2	K562	blood:
18	chr4:151856044..151857786-chr4:151866410..151868032,2	MCF-7	breast:
19	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
20	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
21	chr4:151858340..151860343-chr4:151871989..151873498,2	K562	blood:
22	chr4:151858185..151860880-chr4:151862516..151865242,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145425	chromatin interactions
ENSG00000198589	chromatin interactions

Extended variants
information (count: 1015 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557026128	chr4:151854999-151855000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576772572	chr4:151855097-151855098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184983372	chr4:151855126-151855127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565579655	chr4:151855154-151855155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527931782	chr4:151855155-151855156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542044060	chr4:151855159-151855160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541632125	chr4:151855168-151855169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188922058	chr4:151855235-151855236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1273329	chr4:151855250-151855251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549841458	chr4:151855261-151855262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569760993	chr4:151855273-151855274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148850323	chr4:151855290-151855291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572185936	chr4:151855291-151855292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142586321	chr4:151855295-151855296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147605029	chr4:151855310-151855311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76087649	chr4:151855327-151855328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369775239	chr4:151855376-151855377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562067385	chr4:151855385-151855386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374561384	chr4:151855391-151855392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568241204	chr4:151855415-151855416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529264847	chr4:151855431-151855432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537193629	chr4:151855458-151855459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557085621	chr4:151855493-151855494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545886779	chr4:151855494-151855495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181615159	chr4:151855525-151855526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572375125	chr4:151855526-151855527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539418358	chr4:151855564-151855565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552663962	chr4:151855593-151855594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575007082	chr4:151855598-151855599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142174177	chr4:151855609-151855610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377066348	chr4:151855631-151855632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146096393	chr4:151855642-151855643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574688946	chr4:151855650-151855651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543550551	chr4:151855676-151855677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184684156	chr4:151855681-151855682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531190407	chr4:151855695-151855696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552557686	chr4:151855704-151855705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147853726	chr4:151855709-151855710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1897308	chr4:151855736-151855737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1782366	chr4:151855762-151855763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372986077	chr4:151855777-151855778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150396389	chr4:151855843-151855844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373654669	chr4:151855860-151855861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537250459	chr4:151855883-151855884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550745900	chr4:151855899-151855900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113241515	chr4:151855926-151855927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138178938	chr4:151855927-151855928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373334488	chr4:151855932-151855933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1615230	chr4:151855937-151855938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs28711460	chr4:151855994-151855995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151796200-151872000	Weak transcription	Psoas Muscle	Psoas
2	chr4:151796400-151855000	Weak transcription	Gastric	stomach
3	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
4	chr4:151806800-151860400	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:151812000-151857800	Weak transcription	NH-A	brain
6	chr4:151835800-151859000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:151836000-151855000	Weak transcription	HSMM	muscle
8	chr4:151836000-151863400	Weak transcription	NHEK	skin
9	chr4:151836000-151865000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:151836200-151858000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:151836200-151859800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:151836400-151859600	Weak transcription	HMEC	breast
13	chr4:151836600-151855000	Weak transcription	Brain Anterior Caudate	brain
14	chr4:151836600-151860200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:151837000-151859400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:151837800-151860200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:151840400-151860400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:151841400-151855000	Weak transcription	Stomach Mucosa	stomach
19	chr4:151842200-151860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:151846000-151857800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:151846200-151858200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:151846200-151860400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:151846400-151859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:151846400-151859600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:151846400-151859800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:151846400-151866800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:151846400-151873800	Weak transcription	Fetal Intestine Small	intestine
28	chr4:151846600-151859400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:151846600-151859800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:151847400-151859600	Weak transcription	Fetal Thymus	thymus
31	chr4:151847600-151859800	Weak transcription	K562	blood
32	chr4:151847600-151860200	Weak transcription	Primary T cells from cord blood	blood
33	chr4:151848000-151859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:151849400-151878000	Weak transcription	Primary B cells from cord blood	blood
35	chr4:151850000-151859400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:151850000-151861200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:151850200-151855000	Weak transcription	Liver	Liver
38	chr4:151850200-151859000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:151850200-151859200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:151850200-151859800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:151850200-151860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:151850200-151867400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:151850200-151873800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:151850400-151859000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:151850400-151859600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:151852200-151857800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:151852200-151858600	Weak transcription	GM12878-XiMat	blood
48	chr4:151852200-151866000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:151853400-151855000	Weak transcription	HSMMtube	muscle
50	chr4:151854800-151855200	Enhancers	Left Ventricle	heart

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