Variant report

Variant	nsv436428
Chromosome Location	chr4:15760175-15768831
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: 326 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531446336	chr4:15760179-15760180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145226290	chr4:15760225-15760226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570886444	chr4:15760256-15760257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375371253	chr4:15760278-15760279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188498224	chr4:15760300-15760301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546604654	chr4:15760305-15760306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78193120	chr4:15760321-15760322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116768692	chr4:15760325-15760326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555831427	chr4:15760337-15760338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575882214	chr4:15760370-15760371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538088531	chr4:15760409-15760410	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558306826	chr4:15760411-15760412	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141320349	chr4:15760415-15760416	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540291226	chr4:15760416-15760417	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560197293	chr4:15760463-15760464	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4257648	chr4:15760487-15760488	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs554007347	chr4:15760528-15760529	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574155239	chr4:15760534-15760535	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181307949	chr4:15760608-15760609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531919201	chr4:15760626-15760627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536814764	chr4:15760633-15760634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551310517	chr4:15760639-15760640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564702985	chr4:15760644-15760645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533259313	chr4:15760646-15760647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528952751	chr4:15760664-15760665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34921119	chr4:15760683-15760684	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148895120	chr4:15760684-15760685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76842479	chr4:15760706-15760707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535494368	chr4:15760744-15760745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549339912	chr4:15760781-15760782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189538797	chr4:15760784-15760785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531927113	chr4:15760796-15760797	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371889580	chr4:15760797-15760798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538500519	chr4:15760882-15760883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550144943	chr4:15760891-15760892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558079514	chr4:15760909-15760910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374037341	chr4:15760930-15760931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578183935	chr4:15761017-15761018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534392425	chr4:15761029-15761030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553952551	chr4:15761046-15761047	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375361679	chr4:15761119-15761120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367909061	chr4:15761123-15761124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573764978	chr4:15761129-15761130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368652891	chr4:15761153-15761154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56683772	chr4:15761256-15761257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576770295	chr4:15761296-15761297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181962288	chr4:15761311-15761312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551771656	chr4:15761326-15761327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545246352	chr4:15761329-15761330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79658035	chr4:15761336-15761337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15752600-15767600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:15755600-15760400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:15758600-15760200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr4:15759000-15760200	Enhancers	Primary T cells from cord blood	blood
5	chr4:15759000-15761000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr4:15759200-15765400	Weak transcription	Thymus	Thymus
7	chr4:15759200-15765600	Enhancers	Dnd41	blood
8	chr4:15759200-15766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:15759200-15767800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:15759400-15762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:15759400-15763400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:15759600-15762200	Weak transcription	Fetal Thymus	thymus
13	chr4:15759600-15763000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:15759600-15763400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:15759800-15762000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:15759800-15762000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:15759800-15766200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:15760000-15767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:15760000-15767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:15760200-15760600	Weak transcription	Primary T cells from cord blood	blood
21	chr4:15760200-15767200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:15760400-15760600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:15760600-15761000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:15760600-15761200	Enhancers	Primary T cells from cord blood	blood
25	chr4:15761000-15767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:15761200-15763000	Weak transcription	Primary T cells from cord blood	blood
27	chr4:15762000-15764200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:15762000-15767800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:15762200-15762800	Enhancers	Fetal Thymus	thymus
30	chr4:15762800-15763800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:15762800-15766200	Weak transcription	Fetal Thymus	thymus
32	chr4:15763000-15763400	Enhancers	Primary T cells from cord blood	blood
33	chr4:15763000-15769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:15763400-15763600	Enhancers	GM12878-XiMat	blood
35	chr4:15763400-15763800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:15763400-15764000	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:15763400-15766400	Weak transcription	Primary T cells from cord blood	blood
38	chr4:15763600-15767000	Weak transcription	GM12878-XiMat	blood
39	chr4:15763800-15764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:15763800-15766200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:15764000-15766200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:15764200-15764400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:15764200-15764800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:15764400-15764600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr4:15764400-15765400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:15764600-15767400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:15764800-15775800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:15765400-15767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:15765400-15767200	Enhancers	Thymus	Thymus
50	chr4:15765600-15765800	Enhancers	Fetal Lung	lung

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