Variant report

Variant	nsv527494
Chromosome Location	chr4:151865522-151880765
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151872979..151875947-chr4:151936623..151938393,3	MCF-7	breast:
2	chr4:151856044..151857786-chr4:151866410..151868032,2	MCF-7	breast:
3	chr4:151858340..151860343-chr4:151871989..151873498,2	K562	blood:
4	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
5	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
6	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
7	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
8	chr4:151870335..151873445-chr4:152019879..152022004,3	K562	blood:
9	chr4:151866579..151869157-chr4:152019961..152022233,2	K562	blood:
10	chr1:174358031..174358668-chr4:151874262..151874762,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145425	chromatin interactions
ENSG00000198589	chromatin interactions

Extended variants
information (count: 551 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17027213	chr4:151865522-151865523	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115641574	chr4:151865528-151865529	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144352769	chr4:151865548-151865549	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548934558	chr4:151865549-151865550	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568674391	chr4:151865592-151865593	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112069927	chr4:151865628-151865629	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs72719699	chr4:151865644-151865645	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139151538	chr4:151865647-151865648	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183562875	chr4:151865680-151865681	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537350012	chr4:151865749-151865750	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs149944974	chr4:151865861-151865862	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs17505528	chr4:151865884-151865885	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573330654	chr4:151865952-151865953	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535876218	chr4:151865978-151865979	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555700250	chr4:151865995-151865996	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575485498	chr4:151866018-151866019	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs544474572	chr4:151866034-151866035	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569388272	chr4:151866104-151866105	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs368596093	chr4:151866142-151866143	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs188240776	chr4:151866146-151866147	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539992409	chr4:151866235-151866236	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs559837187	chr4:151866266-151866267	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528919791	chr4:151866327-151866328	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs181968985	chr4:151866359-151866360	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs187436539	chr4:151866465-151866466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189814872	chr4:151866489-151866490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181875640	chr4:151866497-151866498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569806412	chr4:151866580-151866581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72719701	chr4:151866627-151866628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371282865	chr4:151866692-151866693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571114815	chr4:151866695-151866696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115633087	chr4:151866708-151866709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547189583	chr4:151866741-151866742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186260946	chr4:151866769-151866770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539625527	chr4:151866776-151866777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535939069	chr4:151866928-151866929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190151198	chr4:151866950-151866951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573343775	chr4:151867069-151867070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549222495	chr4:151867112-151867113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182746883	chr4:151867141-151867142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540621960	chr4:151867143-151867144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577487990	chr4:151867152-151867153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540053155	chr4:151867162-151867163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111671302	chr4:151867225-151867226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553534112	chr4:151867241-151867242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573427482	chr4:151867248-151867249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185163731	chr4:151867249-151867250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145114440	chr4:151867250-151867251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115783353	chr4:151867293-151867294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368892056	chr4:151867304-151867305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151796200-151872000	Weak transcription	Psoas Muscle	Psoas
2	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
3	chr4:151846400-151866800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:151846400-151873800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:151849400-151878000	Weak transcription	Primary B cells from cord blood	blood
6	chr4:151850200-151867400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:151850200-151873800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:151852200-151866000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:151858600-151870400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:151859800-151882200	Weak transcription	Aorta	Aorta
11	chr4:151860600-151868000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:151860800-151879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:151861000-151878600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:151861200-151867800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:151861200-151870600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:151861400-151867400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:151861600-151872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:151861800-151871800	Weak transcription	Primary T cells from cord blood	blood
19	chr4:151863200-151866800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:151864800-151869600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:151865000-151865600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:151865000-151866200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:151865000-151867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:151865000-151869600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:151865200-151865800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:151865200-151865800	Weak transcription	GM12878-XiMat	blood
27	chr4:151865200-151866600	Weak transcription	NHEK	skin
28	chr4:151865200-151882000	Weak transcription	Ovary	ovary
29	chr4:151865200-151883400	Weak transcription	Gastric	stomach
30	chr4:151865400-151866000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:151865400-151866400	Active TSS	K562	blood
32	chr4:151865400-151867400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:151865400-151879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:151865800-151866800	Enhancers	GM12878-XiMat	blood
35	chr4:151866000-151866400	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:151866000-151866800	Enhancers	Primary B cells from peripheral blood	blood
37	chr4:151866400-151866600	Weak transcription	K562	blood
38	chr4:151866600-151866800	Enhancers	K562	blood
39	chr4:151866800-151867000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:151866800-151871200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:151866800-151871800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:151866800-151871800	Weak transcription	K562	blood
43	chr4:151867000-151867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:151867400-151867600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:151867400-151868200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:151867400-151868400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:151867400-151868400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:151867400-151868800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr4:151867400-151869600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr4:151867600-151873600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links