Variant report

Variant	esv1818879
Chromosome Location	chr4:119344612-119387297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:472)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:119346684-119346850	GM12878	blood:	n/a	n/a
2	BATF	chr4:119349910-119350272	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:119346839-119347055	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:119366080-119366250	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:119345259-119345545	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:119349658-119349869	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:119348069-119348301	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:119357419-119357683	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:119347436-119347664	GM12878	blood:	n/a	n/a
10	BCL3	chr4:119382599-119382899	GM12878	blood:	n/a	n/a
11	CEBPB	chr4:119382583-119382910	IMR90	lung:	n/a	chr4:119382722-119382733
12	CEBPB	chr4:119351771-119351934	K562	blood:	n/a	n/a
13	CEBPB	chr4:119376054-119376279	IMR90	lung:	n/a	n/a
14	CHD2	chr4:119345423-119345555	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr4:119371565-119371608	A549	lung:	n/a	n/a
16	CTCF	chr4:119351352-119351457	LNCaP	prostate:	n/a	n/a
17	CTCF	chr4:119345320-119345470	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr4:119345380-119345530	GM12873	blood:	n/a	n/a
19	CTCF	chr4:119353291-119353306	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:119353285-119353314	K562	blood:	n/a	n/a
21	CTCF	chr4:119345380-119345530	HPF	lung:	n/a	n/a
22	CTCF	chr4:119374118-119374125	LNCaP	prostate:	n/a	n/a
23	CTCF	chr4:119344940-119345090	SAEC	small airway:	n/a	n/a
24	CTCF	chr4:119371620-119371770	GM06990	blood:	n/a	n/a
25	CTCF	chr4:119353200-119353350	GM12872	blood:	n/a	n/a
26	CTCF	chr4:119371545-119371653	LNCaP	prostate:	n/a	n/a
27	CTCF	chr4:119369972-119370076	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr4:119345300-119345450	GM12874	blood:	n/a	n/a
29	CTCF	chr4:119345306-119345496	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr4:119380706-119380731	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr4:119345333-119345490	GM10266	blood:	n/a	n/a
32	CTCF	chr4:119345320-119345470	GM12866	blood:	n/a	n/a
33	CTCF	chr4:119353220-119353370	MCF-7	breast:	n/a	n/a
34	CTCF	chr4:119345109-119345678	A549	lung:	n/a	n/a
35	CTCF	chr4:119345380-119345530	AG04450	lung:	n/a	n/a
36	CTCF	chr4:119345380-119345530	K562	blood:	n/a	n/a
37	CTCF	chr4:119345357-119345529	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr4:119345380-119345530	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr4:119353240-119353390	GM12871	blood:	n/a	n/a
40	CTCF	chr4:119345282-119345520	GM19238	blood:	n/a	n/a
41	CTCF	chr4:119345278-119345524	ProgFib	skin:	n/a	n/a
42	CTCF	chr4:119345380-119345530	GM12874	blood:	n/a	n/a
43	CTCF	chr4:119345320-119345470	A549	lung:	n/a	n/a
44	CTCF	chr4:119345331-119345507	GM12878	blood:	n/a	n/a
45	CTCF	chr4:119345320-119345470	HAc	cerebellar:	n/a	n/a
46	CTCF	chr4:119345300-119345450	GM12878	blood:	n/a	n/a
47	CTCF	chr4:119345300-119345450	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr4:119349722-119349782	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr4:119345380-119345530	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr4:119344960-119345110	HBMEC	blood vessel:	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	chr4:119350138-119350584	XLOC_003661
2	lnc-NDST3-3	chr4:119348948-119349038	XLOC_003661
3	lnc-NDST3-3	chr4:119349734-119350000	XLOC_003661

No data

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

Extended variants
information (count: 411 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:411 , 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	rs556382181	chr4:119344621-119344622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555669195	chr4:119344664-119344665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575946189	chr4:119344693-119344694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544776885	chr4:119344718-119344719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3956427	chr4:119344732-119344733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185573706	chr4:119344749-119344750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572189537	chr4:119344750-119344751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71608380	chr4:119344809-119344810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140691571	chr4:119344885-119344886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137978790	chr4:119344898-119344899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543464191	chr4:119344951-119344952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563975380	chr4:119345034-119345035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199580701	chr4:119345053-119345054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189965773	chr4:119345074-119345075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112151271	chr4:119345093-119345094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566311627	chr4:119345129-119345130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527373318	chr4:119345290-119345291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3956428	chr4:119345298-119345299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547517950	chr4:119345338-119345339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182142651	chr4:119345355-119345356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567254385	chr4:119345424-119345425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs2087076	chr4:119345429-119345430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148602258	chr4:119345441-119345442	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555906884	chr4:119345453-119345454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs569592212	chr4:119345458-119345459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186793554	chr4:119345470-119345471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs538581314	chr4:119345511-119345512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558318099	chr4:119345512-119345513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563930333	chr4:119345567-119345568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140440580	chr4:119345585-119345586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs181985405	chr4:119345591-119345592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574853503	chr4:119345630-119345631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557965262	chr4:119345635-119345636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71608381	chr4:119345674-119345675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs532839521	chr4:119345677-119345678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55958502	chr4:119345681-119345682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529255290	chr4:119345697-119345698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528639800	chr4:119345735-119345736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185180284	chr4:119345738-119345739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548511117	chr4:119345787-119345788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571822740	chr4:119346230-119346231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9684715	chr4:119346274-119346275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560048809	chr4:119346291-119346292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573479752	chr4:119346304-119346305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542386232	chr4:119346305-119346306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188453882	chr4:119346306-119346307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529786482	chr4:119346307-119346308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372451932	chr4:119346310-119346311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149844619	chr4:119346311-119346312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563045229	chr4:119346315-119346316	Enhancers	n/a	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119340800-119345400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:119344200-119345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:119345400-119345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:119345400-119345800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:119345400-119345800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:119345400-119345800	Enhancers	Dnd41	blood
7	chr4:119345600-119345800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:119346200-119347000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:119355000-119356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:119355200-119355600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:119356000-119356800	Enhancers	Fetal Muscle Leg	muscle
12	chr4:119363400-119363800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:119363400-119363800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:119378600-119379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:119382400-119382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:119386800-119387200	Enhancers	NHDF-Ad	bronchial
17	chr4:119386800-119387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:119387200-119387600	Weak transcription	NHDF-Ad	bronchial

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