Variant report

Variant	esv1819059
Chromosome Location	chr4:119346168-119387097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:281)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:119349910-119350272	GM12878	blood:	n/a	n/a
2	BATF	chr4:119346684-119346850	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:119366080-119366250	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:119348069-119348301	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:119347436-119347664	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:119357419-119357683	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:119346839-119347055	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:119349658-119349869	GM12878	blood:	n/a	n/a
9	BCL3	chr4:119382599-119382899	GM12878	blood:	n/a	n/a
10	CEBPB	chr4:119382583-119382910	IMR90	lung:	n/a	chr4:119382722-119382733
11	CEBPB	chr4:119351771-119351934	K562	blood:	n/a	n/a
12	CEBPB	chr4:119376054-119376279	IMR90	lung:	n/a	n/a
13	CTCF	chr4:119380706-119380731	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr4:119369972-119370076	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr4:119353285-119353314	K562	blood:	n/a	n/a
16	CTCF	chr4:119353279-119353285	MCF-7	breast:	n/a	n/a
17	CTCF	chr4:119353220-119353370	MCF-7	breast:	n/a	n/a
18	CTCF	chr4:119353260-119353410	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr4:119353280-119353430	GM12874	blood:	n/a	n/a
20	CTCF	chr4:119371640-119371790	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr4:119386916-119386964	Lung_OC	lung:	n/a	n/a
22	CTCF	chr4:119371558-119371627	GM12878	blood:	n/a	n/a
23	CTCF	chr4:119353160-119353310	HEK293	kidney:	n/a	n/a
24	CTCF	chr4:119353300-119353450	GM12872	blood:	n/a	n/a
25	CTCF	chr4:119371483-119371683	K562	blood:	n/a	n/a
26	CTCF	chr4:119353291-119353306	MCF-7	breast:	n/a	n/a
27	CTCF	chr4:119353200-119353350	AG04449	skin:	n/a	n/a
28	CTCF	chr4:119371523-119371617	Gliobla	brain:	n/a	n/a
29	CTCF	chr4:119358119-119358155	GM20000	blood:	n/a	n/a
30	CTCF	chr4:119371523-119371662	LNCaP	prostate:	n/a	n/a
31	CTCF	chr4:119353277-119353321	MCF-7	breast:	n/a	n/a
32	CTCF	chr4:119368079-119368248	K562	blood:	n/a	n/a
33	CTCF	chr4:119374118-119374125	LNCaP	prostate:	n/a	n/a
34	CTCF	chr4:119371620-119371770	GM06990	blood:	n/a	n/a
35	CTCF	chr4:119371579-119371615	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr4:119373759-119373852	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr4:119353180-119353330	GM12869	blood:	n/a	n/a
38	CTCF	chr4:119371565-119371608	A549	lung:	n/a	n/a
39	CTCF	chr4:119353240-119353390	GM12871	blood:	n/a	n/a
40	CTCF	chr4:119353200-119353350	GM12872	blood:	n/a	n/a
41	CTCF	chr4:119353190-119353445	A549	lung:	n/a	n/a
42	CTCF	chr4:119353200-119353350	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr4:119386938-119386954	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr4:119349722-119349782	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr4:119371545-119371653	LNCaP	prostate:	n/a	n/a
46	CTCF	chr4:119353300-119353450	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr4:119351352-119351457	LNCaP	prostate:	n/a	n/a
48	CTCF	chr4:119370526-119370583	LNCaP	prostate:	n/a	n/a
49	CTCF	chr4:119353215-119353400	LNCaP	prostate:	n/a	n/a
50	CTCF	chr4:119353302-119353334	HepG2	liver:	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:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDST3-3	chr4:119348948-119349038	XLOC_003661
2	lnc-NDST3-3	chr4:119349734-119350000	XLOC_003661
3	lnc-NDST3-3	chr4:119350138-119350584	XLOC_003661

No data

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

Extended variants
information (count: 355 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571822740	chr4:119346230-119346231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9684715	chr4:119346274-119346275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560048809	chr4:119346291-119346292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573479752	chr4:119346304-119346305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542386232	chr4:119346305-119346306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188453882	chr4:119346306-119346307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529786482	chr4:119346307-119346308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372451932	chr4:119346310-119346311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149844619	chr4:119346311-119346312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563045229	chr4:119346315-119346316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531940538	chr4:119346316-119346317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551769972	chr4:119346325-119346326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565937225	chr4:119346337-119346338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376630388	chr4:119346340-119346341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9684716	chr4:119346370-119346371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534640375	chr4:119346407-119346408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548349704	chr4:119346454-119346455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58905236	chr4:119346459-119346460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537551720	chr4:119346509-119346510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9684119	chr4:119346545-119346546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9686045	chr4:119346614-119346615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9686046	chr4:119346653-119346654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557446769	chr4:119346739-119346740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3956429	chr4:119346812-119346813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533081257	chr4:119346814-119346815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9686047	chr4:119346843-119346844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539813983	chr4:119346860-119346861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4001510	chr4:119346863-119346864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9683522	chr4:119346875-119346876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553430155	chr4:119346878-119346879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573465022	chr4:119346884-119346885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4001511	chr4:119346895-119346896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9683524	chr4:119346896-119346897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4001482	chr4:119346916-119346917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575700986	chr4:119346925-119346926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4001483	chr4:119346933-119346934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137975868	chr4:119346940-119346941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141742063	chr4:119346953-119346954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183506898	chr4:119346962-119346963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532100135	chr4:119346964-119346965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551735235	chr4:119346975-119346976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534100722	chr4:119348948-119348949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs577391577	chr4:119348981-119348982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs185164372	chr4:119349010-119349011	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs58467651	chr4:119349011-119349012	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs57800055	chr4:119349013-119349014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs545689032	chr4:119349736-119349737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567893676	chr4:119349805-119349806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs536446966	chr4:119349825-119349826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs555459330	chr4:119349843-119349844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119346200-119347000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119355000-119356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:119355200-119355600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:119356000-119356800	Enhancers	Fetal Muscle Leg	muscle
5	chr4:119363400-119363800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:119363400-119363800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:119378600-119379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:119382400-119382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:119386800-119387200	Enhancers	NHDF-Ad	bronchial
10	chr4:119386800-119387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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