Variant report

Variant	nsv428754
Chromosome Location	chr4:18871493-18907110
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	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
2	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:

Extended variants
information (count: 429 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566095198	chr4:18871496-18871497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536115512	chr4:18871546-18871547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548093419	chr4:18871562-18871563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563873112	chr4:18871612-18871613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575410893	chr4:18871629-18871630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542846096	chr4:18871682-18871683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561169715	chr4:18871749-18871750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528909464	chr4:18871759-18871760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547186429	chr4:18871820-18871821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569469229	chr4:18871865-18871866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185946616	chr4:18871912-18871913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112974099	chr4:18871987-18871988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551633925	chr4:18871999-18872000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190718499	chr4:18872012-18872013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7680267	chr4:18872029-18872030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537361001	chr4:18872043-18872044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549168568	chr4:18872062-18872063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567469879	chr4:18872072-18872073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183388462	chr4:18872085-18872086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553229945	chr4:18872091-18872092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187749199	chr4:18872107-18872108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538684666	chr4:18872164-18872165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557215897	chr4:18872195-18872196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371790095	chr4:18872213-18872214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575497573	chr4:18872218-18872219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542917502	chr4:18872221-18872222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374827119	chr4:18872247-18872248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576855241	chr4:18872296-18872297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369455890	chr4:18872356-18872357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554703434	chr4:18872372-18872373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573143515	chr4:18872373-18872374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143752233	chr4:18877412-18877413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192897763	chr4:18877453-18877454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576578342	chr4:18877465-18877466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532902754	chr4:18877471-18877472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185046236	chr4:18877605-18877606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188393441	chr4:18877639-18877640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116990837	chr4:18877663-18877664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61531830	chr4:18877672-18877673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs151075871	chr4:18877674-18877675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141293382	chr4:18877697-18877698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180855880	chr4:18877712-18877713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545160911	chr4:18877714-18877715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563560327	chr4:18877718-18877719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531257634	chr4:18877816-18877817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549473354	chr4:18877875-18877876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561714304	chr4:18877981-18877982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10939815	chr4:18878005-18878006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547655775	chr4:18878025-18878026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565802278	chr4:18878033-18878034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18870800-18872000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:18871800-18872400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:18871800-18872400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:18877400-18885600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:18879600-18880200	Enhancers	Fetal Kidney	kidney
6	chr4:18880800-18881000	Enhancers	Rectal Smooth Muscle	rectum
7	chr4:18882200-18883000	Enhancers	Brain Germinal Matrix	brain
8	chr4:18882400-18884400	Enhancers	Colon Smooth Muscle	Colon
9	chr4:18882600-18884400	Enhancers	Fetal Stomach	stomach
10	chr4:18883000-18883200	Enhancers	Fetal Lung	lung
11	chr4:18883000-18884400	Enhancers	Fetal Heart	heart
12	chr4:18883000-18884400	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:18883000-18884600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:18883200-18883400	Flanking Active TSS	Fetal Lung	lung
15	chr4:18883200-18884600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:18883400-18883600	Enhancers	Fetal Lung	lung
17	chr4:18883400-18883800	Enhancers	HSMMtube	muscle
18	chr4:18883600-18883800	Flanking Active TSS	Fetal Lung	lung
19	chr4:18883600-18884400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr4:18883800-18884000	Flanking Active TSS	HSMMtube	muscle
21	chr4:18883800-18884000	Enhancers	NH-A	brain
22	chr4:18883800-18884200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:18883800-18884400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:18883800-18884400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:18883800-18884400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:18883800-18884400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:18883800-18884400	Enhancers	Right Ventricle	heart
28	chr4:18883800-18884400	Enhancers	HMEC	breast
29	chr4:18883800-18884400	Enhancers	NHLF	lung
30	chr4:18883800-18884600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:18883800-18884600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:18883800-18884600	Enhancers	Fetal Lung	lung
33	chr4:18883800-18885200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:18884000-18884200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:18884000-18884200	Enhancers	Pancreas	Pancrea
36	chr4:18884000-18884200	Active TSS	HSMMtube	muscle
37	chr4:18884000-18884400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:18884000-18884400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:18884000-18884400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:18884000-18884400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:18884000-18884400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:18884000-18884400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:18884000-18884400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:18884000-18884400	Enhancers	Fetal Muscle Leg	muscle
45	chr4:18884000-18884400	Enhancers	Placenta	Placenta
46	chr4:18884000-18884400	Flanking Active TSS	NH-A	brain
47	chr4:18884000-18884400	Enhancers	NHEK	skin
48	chr4:18884200-18884400	Flanking Active TSS	HSMMtube	muscle
49	chr4:18884200-18886600	Weak transcription	Pancreas	Pancrea
50	chr4:18886600-18886800	ZNF genes & repeats	Pancreas	Pancrea

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