Variant report

Variant	nsv1026672
Chromosome Location	chr4:151868828-151881401
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
2	chr4:151870335..151873445-chr4:152019879..152022004,3	K562	blood:
3	chr4:151858340..151860343-chr4:151871989..151873498,2	K562	blood:
4	chr1:174358031..174358668-chr4:151874262..151874762,2	MCF-7	breast:
5	chr4:151872979..151875947-chr4:151936623..151938393,3	MCF-7	breast:
6	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
7	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
8	chr4:151866579..151869157-chr4:152019961..152022233,2	K562	blood:
9	chr4:151881135..151883794-chr4:151886997..151888968,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198589	chromatin interactions
ENSG00000145425	chromatin interactions

Extended variants
information (count: 464 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189043421	chr4:151868962-151868963	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527585374	chr4:151868964-151868965	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556053747	chr4:151869068-151869069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551634198	chr4:151869128-151869129	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs193140009	chr4:151869137-151869138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538717695	chr4:151869165-151869166	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558634196	chr4:151869208-151869209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572063292	chr4:151869211-151869212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183596777	chr4:151869212-151869213	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560772137	chr4:151869274-151869275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569787003	chr4:151869303-151869304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543239996	chr4:151869333-151869334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375206492	chr4:151869420-151869421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187477440	chr4:151869422-151869423	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551450476	chr4:151869449-151869450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140606539	chr4:151869592-151869593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112553057	chr4:151869605-151869606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547356507	chr4:151869631-151869632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369419408	chr4:151869632-151869633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191569701	chr4:151869693-151869694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36002999	chr4:151869740-151869741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537241483	chr4:151869757-151869758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536143346	chr4:151869795-151869796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549977659	chr4:151869801-151869802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184050945	chr4:151869829-151869830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538780140	chr4:151869857-151869858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187992427	chr4:151869886-151869887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572124774	chr4:151869907-151869908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534616802	chr4:151869932-151869933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565300029	chr4:151869951-151869952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192722472	chr4:151869989-151869990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534362695	chr4:151870003-151870004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200639633	chr4:151870030-151870031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78849089	chr4:151870049-151870050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563136578	chr4:151870053-151870054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145704952	chr4:151870097-151870098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369370494	chr4:151870109-151870110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545148429	chr4:151870201-151870202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565057299	chr4:151870253-151870254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552570641	chr4:151870264-151870265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115961084	chr4:151870273-151870274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577195768	chr4:151870306-151870307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547424217	chr4:151870321-151870322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6821095	chr4:151870344-151870345	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111389739	chr4:151870366-151870367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552910364	chr4:151870389-151870390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148128432	chr4:151870429-151870430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538998080	chr4:151870454-151870455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113762251	chr4:151870472-151870473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549799111	chr4:151870475-151870476	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:242 , 50 per page) page: 1 2 3 4 5

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	chr4:151846400-151873800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:151849400-151878000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:151850200-151873800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:151858600-151870400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:151859800-151882200	Weak transcription	Aorta	Aorta
8	chr4:151860800-151879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:151861000-151878600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:151861200-151870600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:151861600-151872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:151861800-151871800	Weak transcription	Primary T cells from cord blood	blood
13	chr4:151864800-151869600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:151865000-151869600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:151865200-151882000	Weak transcription	Ovary	ovary
16	chr4:151865200-151883400	Weak transcription	Gastric	stomach
17	chr4:151865400-151879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:151866800-151871200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:151866800-151871800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:151866800-151871800	Weak transcription	K562	blood
21	chr4:151867400-151869600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:151867600-151873600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:151867800-151869000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:151868600-151869600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:151868800-151869000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:151868800-151869000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:151868800-151869000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:151868800-151871800	Weak transcription	Liver	Liver
29	chr4:151869000-151870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:151869000-151871600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:151869000-151873200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:151869000-151873200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:151869600-151869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:151869600-151870800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:151869600-151871800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:151869600-151871800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:151869800-151871200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:151870400-151870600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:151870400-151871200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr4:151870600-151871200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:151870600-151871200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:151870600-151871400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr4:151870800-151872400	Enhancers	Stomach Mucosa	stomach
44	chr4:151870800-151872800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr4:151871000-151872000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr4:151871200-151872000	Enhancers	GM12878-XiMat	blood
47	chr4:151871200-151872400	Enhancers	Primary hematopoietic stem cells	blood
48	chr4:151871200-151872400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr4:151871200-151872400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:151871200-151872400	Enhancers	Fetal Heart	heart

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