Variant report

Variant	esv1849744
Chromosome Location	chr4:119351892-119387297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr4:119357419-119357683	GM12878	blood:	n/a	n/a
2	BCL11A	chr4:119366080-119366250	GM12878	blood:	n/a	n/a
3	BCL3	chr4:119382599-119382899	GM12878	blood:	n/a	n/a
4	CEBPB	chr4:119376054-119376279	IMR90	lung:	n/a	n/a
5	CEBPB	chr4:119382583-119382910	IMR90	lung:	n/a	chr4:119382722-119382733
6	CEBPB	chr4:119351771-119351934	K562	blood:	n/a	n/a
7	CTCF	chr4:119374118-119374125	LNCaP	prostate:	n/a	n/a
8	CTCF	chr4:119373759-119373852	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr4:119353200-119353350	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr4:119353240-119353390	GM12871	blood:	n/a	n/a
11	CTCF	chr4:119386916-119386964	Lung_OC	lung:	n/a	n/a
12	CTCF	chr4:119371579-119371615	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr4:119371558-119371627	GM12878	blood:	n/a	n/a
14	CTCF	chr4:119353302-119353334	HepG2	liver:	n/a	n/a
15	CTCF	chr4:119353200-119353350	AG04449	skin:	n/a	n/a
16	CTCF	chr4:119371545-119371653	LNCaP	prostate:	n/a	n/a
17	CTCF	chr4:119353220-119353370	MCF-7	breast:	n/a	n/a
18	CTCF	chr4:119353285-119353314	K562	blood:	n/a	n/a
19	CTCF	chr4:119371640-119371790	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr4:119353215-119353400	LNCaP	prostate:	n/a	n/a
21	CTCF	chr4:119353180-119353330	GM12869	blood:	n/a	n/a
22	CTCF	chr4:119353291-119353306	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:119353260-119353410	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr4:119353279-119353285	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:119353190-119353445	A549	lung:	n/a	n/a
26	CTCF	chr4:119371523-119371662	LNCaP	prostate:	n/a	n/a
27	CTCF	chr4:119368079-119368248	K562	blood:	n/a	n/a
28	CTCF	chr4:119353200-119353350	GM12872	blood:	n/a	n/a
29	CTCF	chr4:119353280-119353430	GM12874	blood:	n/a	n/a
30	CTCF	chr4:119371565-119371608	A549	lung:	n/a	n/a
31	CTCF	chr4:119353160-119353310	HEK293	kidney:	n/a	n/a
32	CTCF	chr4:119353300-119353450	GM12872	blood:	n/a	n/a
33	CTCF	chr4:119370526-119370583	LNCaP	prostate:	n/a	n/a
34	CTCF	chr4:119371483-119371683	K562	blood:	n/a	n/a
35	CTCF	chr4:119380706-119380731	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr4:119371523-119371617	Gliobla	brain:	n/a	n/a
37	CTCF	chr4:119353300-119353450	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr4:119386938-119386954	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr4:119353277-119353321	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:119371620-119371770	GM06990	blood:	n/a	n/a
41	CTCF	chr4:119358119-119358155	GM20000	blood:	n/a	n/a
42	CTCF	chr4:119369972-119370076	Pancreas_OC	pancreas:	n/a	n/a
43	EP300	chr4:119357539-119357829	GM12878	blood:	n/a	n/a
44	EP300	chr4:119362732-119363114	GM12878	blood:	n/a	n/a
45	EP300	chr4:119354148-119354449	GM12878	blood:	n/a	n/a
46	EP300	chr4:119358313-119358613	GM12878	blood:	n/a	n/a
47	EP300	chr4:119356114-119356399	GM12878	blood:	n/a	n/a
48	EP300	chr4:119352885-119353216	GM12878	blood:	n/a	n/a
49	FOS	chr4:119382607-119383030	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr4:119354681-119354889	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119199281..119200962-chr4:119368800..119371509,2	MCF-7	breast:

No data

Variant related genes	Relation type
CEP170P1	TF binding region
ENSG00000269893	chromatin interactions

Extended variants
information (count: 302 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:302 , 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	rs368379335	chr4:119355067-119355068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372488304	chr4:119355101-119355102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200800774	chr4:119355102-119355103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539419416	chr4:119355148-119355149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143282856	chr4:119355156-119355157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9684105	chr4:119355184-119355185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12152584	chr4:119355192-119355193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368641031	chr4:119355244-119355245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536184672	chr4:119355275-119355276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12152588	chr4:119355299-119355300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555536985	chr4:119355310-119355311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28636612	chr4:119355347-119355348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12152587	chr4:119355377-119355378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544411041	chr4:119355402-119355403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556606078	chr4:119355404-119355405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529744566	chr4:119355435-119355436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576894219	chr4:119355460-119355461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545461680	chr4:119355469-119355470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61186165	chr4:119355488-119355489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559335513	chr4:119355500-119355501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57325464	chr4:119355582-119355583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147059799	chr4:119355597-119355598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528368641	chr4:119355613-119355614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58639535	chr4:119355644-119355645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148367386	chr4:119355650-119355651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376707185	chr4:119355652-119355653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550603587	chr4:119355653-119355654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12152670	chr4:119355664-119355665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12152671	chr4:119355666-119355667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9684131	chr4:119355684-119355685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574904355	chr4:119355700-119355701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60422207	chr4:119355726-119355727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367896745	chr4:119355728-119355729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542193513	chr4:119355747-119355748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58979226	chr4:119355748-119355749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201131819	chr4:119355788-119355789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372101917	chr4:119355858-119355859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9685447	chr4:119355860-119355861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561968335	chr4:119355874-119355875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530685816	chr4:119355899-119355900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9685569	chr4:119355906-119355907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550813739	chr4:119355924-119355925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564399033	chr4:119355934-119355935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4088778	chr4:119355949-119355950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57302612	chr4:119355950-119355951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4093104	chr4:119355965-119355966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183940240	chr4:119355973-119355974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375861532	chr4:119355980-119355981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1825697	chr4:119356000-119356001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4079221	chr4:119356012-119356013	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119355000-119356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:119355200-119355600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:119356000-119356800	Enhancers	Fetal Muscle Leg	muscle
4	chr4:119363400-119363800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:119363400-119363800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:119378600-119379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:119382400-119382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:119386800-119387200	Enhancers	NHDF-Ad	bronchial
9	chr4:119386800-119387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:119387200-119387600	Weak transcription	NHDF-Ad	bronchial

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