Variant report

Variant	nsv1008625
Chromosome Location	chr4:18880048-19148705
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:49990781..49991366-chr4:19000460..19000979,2	HCT-116	colon:
2	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
3	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
4	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
5	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
6	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
7	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:
8	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
9	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
10	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
11	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
12	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
13	chr4:19118666..19120200-chr4:19121807..19124671,2	K562	blood:
14	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:
15	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
16	chr4:19118666..19120200-chr4:19121807..19124671,2	K562	blood:
17	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
18	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
19	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142541	chromatin interactions

Extended variants
information (count: 4139 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:4139 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534414515	chr4:18880091-18880092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553130214	chr4:18880112-18880113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186920197	chr4:18880128-18880129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553188696	chr4:18880178-18880179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79983038	chr4:18880180-18880181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563296790	chr4:18880193-18880194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575405134	chr4:18880226-18880227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575392546	chr4:18880235-18880236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536438212	chr4:18880241-18880242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528336946	chr4:18880283-18880284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574574350	chr4:18880313-18880314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77657523	chr4:18880385-18880386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546757138	chr4:18880399-18880400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565073302	chr4:18880409-18880410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551335192	chr4:18880415-18880416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532492026	chr4:18880487-18880488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535184797	chr4:18880512-18880513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191341315	chr4:18880543-18880544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144025903	chr4:18880546-18880547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536534176	chr4:18880609-18880610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527816685	chr4:18880690-18880691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548909804	chr4:18880704-18880705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566928231	chr4:18880723-18880724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534436061	chr4:18880797-18880798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115233928	chr4:18880806-18880807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577787933	chr4:18880936-18880937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538743282	chr4:18880937-18880938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554889116	chr4:18880957-18880958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556957354	chr4:18880961-18880962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4371612	chr4:18880979-18880980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542554930	chr4:18881036-18881037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9992560	chr4:18881056-18881057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572936391	chr4:18881073-18881074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184236012	chr4:18881075-18881076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573460794	chr4:18881113-18881114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147370913	chr4:18881142-18881143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532429020	chr4:18881153-18881154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544338302	chr4:18881168-18881169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562538387	chr4:18881172-18881173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7659839	chr4:18881178-18881179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548583271	chr4:18881207-18881208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567116840	chr4:18881221-18881222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188740540	chr4:18881245-18881246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115885096	chr4:18881258-18881259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375268632	chr4:18881300-18881301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538729887	chr4:18881310-18881311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193164456	chr4:18881336-18881337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139471246	chr4:18881454-18881455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75820089	chr4:18881492-18881493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73090976	chr4:18881541-18881542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18877400-18885600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:18879600-18880200	Enhancers	Fetal Kidney	kidney
3	chr4:18880800-18881000	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:18882200-18883000	Enhancers	Brain Germinal Matrix	brain
5	chr4:18882400-18884400	Enhancers	Colon Smooth Muscle	Colon
6	chr4:18882600-18884400	Enhancers	Fetal Stomach	stomach
7	chr4:18883000-18883200	Enhancers	Fetal Lung	lung
8	chr4:18883000-18884400	Enhancers	Fetal Heart	heart
9	chr4:18883000-18884400	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:18883000-18884600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:18883200-18883400	Flanking Active TSS	Fetal Lung	lung
12	chr4:18883200-18884600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:18883400-18883600	Enhancers	Fetal Lung	lung
14	chr4:18883400-18883800	Enhancers	HSMMtube	muscle
15	chr4:18883600-18883800	Flanking Active TSS	Fetal Lung	lung
16	chr4:18883600-18884400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:18883800-18884000	Flanking Active TSS	HSMMtube	muscle
18	chr4:18883800-18884000	Enhancers	NH-A	brain
19	chr4:18883800-18884200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:18883800-18884400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:18883800-18884400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:18883800-18884400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:18883800-18884400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:18883800-18884400	Enhancers	Right Ventricle	heart
25	chr4:18883800-18884400	Enhancers	HMEC	breast
26	chr4:18883800-18884400	Enhancers	NHLF	lung
27	chr4:18883800-18884600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:18883800-18884600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:18883800-18884600	Enhancers	Fetal Lung	lung
30	chr4:18883800-18885200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:18884000-18884200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:18884000-18884200	Enhancers	Pancreas	Pancrea
33	chr4:18884000-18884200	Active TSS	HSMMtube	muscle
34	chr4:18884000-18884400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:18884000-18884400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:18884000-18884400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:18884000-18884400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:18884000-18884400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:18884000-18884400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:18884000-18884400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:18884000-18884400	Enhancers	Fetal Muscle Leg	muscle
42	chr4:18884000-18884400	Enhancers	Placenta	Placenta
43	chr4:18884000-18884400	Flanking Active TSS	NH-A	brain
44	chr4:18884000-18884400	Enhancers	NHEK	skin
45	chr4:18884200-18884400	Flanking Active TSS	HSMMtube	muscle
46	chr4:18884200-18886600	Weak transcription	Pancreas	Pancrea
47	chr4:18886600-18886800	ZNF genes & repeats	Pancreas	Pancrea
48	chr4:18886800-18887000	Weak transcription	Pancreas	Pancrea
49	chr4:18902000-18902600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:18902000-18903800	Enhancers	Fetal Heart	heart

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