Variant report

Variant	nsv516315
Chromosome Location	chr4:15760487-15767752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15756091..15759053-chr4:15760303..15762164,2	K562	blood:

Extended variants
information (count: 261 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4257648	chr4:15760487-15760488	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554007347	chr4:15760528-15760529	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574155239	chr4:15760534-15760535	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181307949	chr4:15760608-15760609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531919201	chr4:15760626-15760627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536814764	chr4:15760633-15760634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551310517	chr4:15760639-15760640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564702985	chr4:15760644-15760645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533259313	chr4:15760646-15760647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528952751	chr4:15760664-15760665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34921119	chr4:15760683-15760684	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148895120	chr4:15760684-15760685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76842479	chr4:15760706-15760707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535494368	chr4:15760744-15760745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549339912	chr4:15760781-15760782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189538797	chr4:15760784-15760785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531927113	chr4:15760796-15760797	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371889580	chr4:15760797-15760798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538500519	chr4:15760882-15760883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550144943	chr4:15760891-15760892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558079514	chr4:15760909-15760910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374037341	chr4:15760930-15760931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578183935	chr4:15761017-15761018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534392425	chr4:15761029-15761030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553952551	chr4:15761046-15761047	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375361679	chr4:15761119-15761120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367909061	chr4:15761123-15761124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573764978	chr4:15761129-15761130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368652891	chr4:15761153-15761154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56683772	chr4:15761256-15761257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576770295	chr4:15761296-15761297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181962288	chr4:15761311-15761312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551771656	chr4:15761326-15761327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545246352	chr4:15761329-15761330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79658035	chr4:15761336-15761337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187432741	chr4:15761367-15761368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191395892	chr4:15761405-15761406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547179734	chr4:15761416-15761417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116049893	chr4:15761419-15761420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116369616	chr4:15761450-15761451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115689128	chr4:15761452-15761453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569195090	chr4:15761479-15761480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531917532	chr4:15761506-15761507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75864855	chr4:15761522-15761523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34689171	chr4:15761529-15761530	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181591346	chr4:15761546-15761547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554385321	chr4:15761714-15761715	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567391988	chr4:15761754-15761755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536312222	chr4:15761811-15761812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143588909	chr4:15761855-15761856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15752600-15767600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:15759000-15761000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr4:15759200-15765400	Weak transcription	Thymus	Thymus
4	chr4:15759200-15765600	Enhancers	Dnd41	blood
5	chr4:15759200-15766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:15759200-15767800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:15759400-15762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:15759400-15763400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:15759600-15762200	Weak transcription	Fetal Thymus	thymus
10	chr4:15759600-15763000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:15759600-15763400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:15759800-15762000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr4:15759800-15762000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:15759800-15766200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:15760000-15767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:15760000-15767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:15760200-15760600	Weak transcription	Primary T cells from cord blood	blood
18	chr4:15760200-15767200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:15760400-15760600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:15760600-15761000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:15760600-15761200	Enhancers	Primary T cells from cord blood	blood
22	chr4:15761000-15767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:15761200-15763000	Weak transcription	Primary T cells from cord blood	blood
24	chr4:15762000-15764200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:15762000-15767800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:15762200-15762800	Enhancers	Fetal Thymus	thymus
27	chr4:15762800-15763800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:15762800-15766200	Weak transcription	Fetal Thymus	thymus
29	chr4:15763000-15763400	Enhancers	Primary T cells from cord blood	blood
30	chr4:15763000-15769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:15763400-15763600	Enhancers	GM12878-XiMat	blood
32	chr4:15763400-15763800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:15763400-15764000	Enhancers	Primary hematopoietic stem cells	blood
34	chr4:15763400-15766400	Weak transcription	Primary T cells from cord blood	blood
35	chr4:15763600-15767000	Weak transcription	GM12878-XiMat	blood
36	chr4:15763800-15764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:15763800-15766200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:15764000-15766200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr4:15764200-15764400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:15764200-15764800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr4:15764400-15764600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr4:15764400-15765400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:15764600-15767400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:15764800-15775800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:15765400-15767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:15765400-15767200	Enhancers	Thymus	Thymus
47	chr4:15765600-15765800	Enhancers	Fetal Lung	lung
48	chr4:15765600-15768000	Flanking Active TSS	Dnd41	blood
49	chr4:15766200-15766400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:15766200-15767800	Enhancers	Fetal Thymus	thymus

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