Variant report

Variant	esv1806710
Chromosome Location	chr4:119338360-119402276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr4:119340543-119341192	GM12878	blood:	n/a	chr4:119340900-119340911
3	BATF	chr4:119340637-119341181	GM12878	blood:	n/a	chr4:119340900-119340911
4	BATF	chr4:119349910-119350272	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:119346839-119347055	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:119347436-119347664	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:119348069-119348301	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:119366080-119366250	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:119345259-119345545	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:119357419-119357683	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:119340729-119341128	GM12878	blood:	n/a	chr4:119340900-119340909
12	BCL11A	chr4:119349658-119349869	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:119340615-119341149	GM12878	blood:	n/a	chr4:119340900-119340909
14	BCL3	chr4:119382599-119382899	GM12878	blood:	n/a	n/a
15	CEBPB	chr4:119338475-119338816	IMR90	lung:	n/a	n/a
16	CEBPB	chr4:119340964-119341126	HepG2	liver:	n/a	chr4:119340996-119341007 chr4:119341094-119341111 chr4:119340996-119341009
17	CEBPB	chr4:119382583-119382910	IMR90	lung:	n/a	chr4:119382722-119382733
18	CEBPB	chr4:119340977-119341100	IMR90	lung:	n/a	chr4:119340996-119341007 chr4:119340996-119341009
19	CEBPB	chr4:119351771-119351934	K562	blood:	n/a	n/a
20	CEBPB	chr4:119376054-119376279	IMR90	lung:	n/a	n/a
21	CEBPB	chr4:119340970-119341155	Hela-S3	cervix:	n/a	chr4:119340996-119341007 chr4:119341094-119341111 chr4:119340996-119341009
22	CHD2	chr4:119345423-119345555	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr4:119345285-119345535	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr4:119345365-119345439	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr4:119345320-119345470	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr4:119344940-119345090	BJ	skin:	n/a	n/a
27	CTCF	chr4:119351352-119351457	LNCaP	prostate:	n/a	n/a
28	CTCF	chr4:119345278-119345524	ProgFib	skin:	n/a	n/a
29	CTCF	chr4:119345380-119345530	AG04449	skin:	n/a	n/a
30	CTCF	chr4:119369972-119370076	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr4:119345282-119345525	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr4:119353279-119353285	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:119353260-119353410	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr4:119345306-119345491	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr4:119345280-119345430	Caco-2	colon:	n/a	n/a
36	CTCF	chr4:119345380-119345530	GM12865	blood:	n/a	n/a
37	CTCF	chr4:119371579-119371615	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr4:119345300-119345450	GM12864	blood:	n/a	n/a
39	CTCF	chr4:119345380-119345530	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr4:119400117-119400177	GM13976	blood:	n/a	n/a
41	CTCF	chr4:119353302-119353334	HepG2	liver:	n/a	n/a
42	CTCF	chr4:119345380-119345530	AG04450	lung:	n/a	n/a
43	CTCF	chr4:119345300-119345450	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr4:119353240-119353390	GM12871	blood:	n/a	n/a
45	CTCF	chr4:119345276-119345544	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:119345320-119345470	HCT-116	colon:	n/a	n/a
47	CTCF	chr4:119371620-119371770	GM06990	blood:	n/a	n/a
48	CTCF	chr4:119345380-119345530	SAEC	small airway:	n/a	n/a
49	CTCF	chr4:119374118-119374125	LNCaP	prostate:	n/a	n/a
50	CTCF	chr4:119345380-119345530	WERI-Rb-1	eye:	n/a	n/a

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

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

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

Extended variants
information (count: 1035 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372145296	chr4:119338379-119338380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376319277	chr4:119338383-119338384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189161498	chr4:119338384-119338385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7662282	chr4:119338395-119338396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs193035782	chr4:119338413-119338414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185823903	chr4:119338417-119338418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370634000	chr4:119338442-119338443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543465669	chr4:119338447-119338448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534632299	chr4:119338454-119338455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554331065	chr4:119338464-119338465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372749299	chr4:119338480-119338481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56217716	chr4:119338490-119338491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543551646	chr4:119338521-119338522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557380301	chr4:119338540-119338541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117065573	chr4:119338548-119338549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546184599	chr4:119338575-119338576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189087877	chr4:119338593-119338594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181086402	chr4:119338653-119338654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556348248	chr4:119338685-119338686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562138727	chr4:119338777-119338778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531086685	chr4:119338797-119338798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576881203	chr4:119338805-119338806	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs550901867	chr4:119338806-119338807	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs6819993	chr4:119338829-119338830	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs559711104	chr4:119338876-119338877	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs374748353	chr4:119338898-119338899	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs532096548	chr4:119338927-119338928	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs144735430	chr4:119338968-119338969	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs185445160	chr4:119338974-119338975	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs528390995	chr4:119339045-119339046	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs535436855	chr4:119339058-119339059	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs370944618	chr4:119339133-119339134	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs188393653	chr4:119339166-119339167	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs541699182	chr4:119339181-119339182	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs1828857	chr4:119339182-119339183	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1808022	chr4:119339208-119339209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556894418	chr4:119339222-119339223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1828856	chr4:119339227-119339228	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530909226	chr4:119339336-119339337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3896922	chr4:119339345-119339346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546352195	chr4:119339367-119339368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553393316	chr4:119339458-119339459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573320721	chr4:119339484-119339485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542246312	chr4:119339499-119339500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4103597	chr4:119339515-119339516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3879776	chr4:119339569-119339570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71608371	chr4:119339691-119339692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531124020	chr4:119339767-119339768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544761463	chr4:119339913-119339914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564550691	chr4:119339923-119339924	Weak transcription	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119337400-119339200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:119337600-119339400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:119338000-119339200	Enhancers	HMEC	breast
4	chr4:119338000-119339400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:119338000-119339400	Enhancers	NHEK	skin
6	chr4:119338200-119338600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:119338400-119338600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:119338400-119338800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:119338400-119338800	Enhancers	Osteobl	bone
10	chr4:119338400-119339000	Enhancers	HSMMtube	muscle
11	chr4:119338400-119339400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:119338600-119339000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:119338600-119339200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:119338600-119339200	Enhancers	Liver	Liver
15	chr4:119338600-119339800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:119338800-119339200	Bivalent Enhancer	Osteobl	bone
17	chr4:119339200-119339400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:119339200-119340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:119340600-119340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:119340600-119341000	Active TSS	Osteobl	bone
21	chr4:119340800-119345400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:119344200-119345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:119345400-119345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:119345400-119345800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:119345400-119345800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:119345400-119345800	Enhancers	Dnd41	blood
27	chr4:119345600-119345800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:119346200-119347000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:119355000-119356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:119355200-119355600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:119356000-119356800	Enhancers	Fetal Muscle Leg	muscle
32	chr4:119363400-119363800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:119363400-119363800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:119378600-119379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:119382400-119382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:119386800-119387200	Enhancers	NHDF-Ad	bronchial
37	chr4:119386800-119387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:119387200-119387600	Weak transcription	NHDF-Ad	bronchial
39	chr4:119387400-119387800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:119387600-119388200	Enhancers	NHDF-Ad	bronchial
41	chr4:119387600-119390200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:119387800-119388000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr4:119387800-119388200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:119387800-119388200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:119387800-119388800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:119388000-119388800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:119388000-119389800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:119388200-119395000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:119389800-119390000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:119389800-119390000	Enhancers	Pancreas	Pancrea

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