Variant report

Variant	esv3408889
Chromosome Location	chr4:119243370-119247305
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	CEBPB	chr4:119243564-119243748	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:119243563-119243747	IMR90	lung:	n/a	n/a
3	CTCF	chr4:119244800-119244950	Hela-S3	cervix:	n/a	n/a
4	EP300	chr4:119244130-119244682	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr4:119243944-119244873	SK-N-SH	brain:	n/a	n/a
6	EP300	chr4:119244129-119244701	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr4:119243832-119243903	GM12878	blood:	n/a	n/a
8	GATA3	chr4:119247172-119247750	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr4:119244056-119244841	SK-N-SH	brain:	n/a	chr4:119244565-119244581
10	GATA3	chr4:119247186-119247907	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr4:119244315-119244807	SH-SY5Y	brain:	n/a	chr4:119244565-119244581
12	GATA3	chr4:119246191-119246275	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr4:119245645-119245728	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr4:119243856-119244945	SK-N-SH	brain:	n/a	chr4:119244565-119244581
15	MAFF	chr4:119246626-119246961	HepG2	liver:	n/a	chr4:119246780-119246798
16	MAFF	chr4:119246679-119246914	K562	blood:	n/a	chr4:119246780-119246798
17	MAFK	chr4:119246610-119246952	HepG2	liver:	n/a	chr4:119246785-119246801 chr4:119246782-119246797 chr4:119246783-119246803 chr4:119246781-119246795
18	MAFK	chr4:119246628-119246966	HepG2	liver:	n/a	chr4:119246785-119246801 chr4:119246782-119246797 chr4:119246783-119246803 chr4:119246781-119246795
19	MAFK	chr4:119246621-119246989	IMR90	lung:	n/a	chr4:119246785-119246801 chr4:119246782-119246797 chr4:119246783-119246803 chr4:119246781-119246795
20	MAFK	chr4:119246690-119246896	K562	blood:	n/a	chr4:119246785-119246801 chr4:119246782-119246797 chr4:119246783-119246803 chr4:119246781-119246795
21	MAFK	chr4:119246709-119246935	H1-hESC	embryonic stem cell:	n/a	chr4:119246785-119246801 chr4:119246782-119246797 chr4:119246783-119246803 chr4:119246781-119246795
22	NFIC	chr4:119243874-119244884	SK-N-SH	brain:	n/a	n/a
23	PBX3	chr4:119244025-119244712	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr4:119243943-119244830	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr4:119244117-119244720	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr4:119244382-119244595	SK-N-SH	brain:	n/a	n/a
27	TCF12	chr4:119243868-119244897	SK-N-SH	brain:	n/a	n/a
28	TCF12	chr4:119243908-119244875	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:119203588..119205847-chr4:119243222..119244861,2	MCF-7	breast:
2	chr4:119199610..119201331-chr4:119243734..119245507,2	K562	blood:
3	chr4:119201888..119204212-chr4:119242827..119245700,4	K562	blood:
4	chr4:119238222..119241031-chr4:119243749..119246100,2	MCF-7	breast:
5	chr4:119201888..119204212-chr4:119242827..119245536,2	K562	blood:
6	chr4:119199843..119203968-chr4:119245801..119250116,5	MCF-7	breast:
7	chr4:119205014..119207897-chr4:119243255..119244938,2	K562	blood:
8	chr4:119246811..119249310-chr4:119251021..119252751,2	K562	blood:

Variant related genes	Relation type
PRSS12	TF binding region
ENSG00000164099	chromatin interactions
ENSG00000269893	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187215820	chr4:119243382-119243383	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531256688	chr4:119243384-119243385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531361399	chr4:119243395-119243396	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553331296	chr4:119243427-119243428	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370945626	chr4:119243433-119243434	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570719384	chr4:119243445-119243446	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551484035	chr4:119243470-119243471	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192185965	chr4:119243526-119243527	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112880991	chr4:119243553-119243554	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565317010	chr4:119243558-119243559	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138121157	chr4:119243578-119243579	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs115822103	chr4:119243583-119243584	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs111741979	chr4:119243603-119243604	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs149563852	chr4:119243637-119243638	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs557154907	chr4:119243674-119243675	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201688474	chr4:119243705-119243706	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs183806658	chr4:119243801-119243802	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546294963	chr4:119243811-119243812	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144271983	chr4:119243879-119243880	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs573299667	chr4:119243911-119243912	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs4833572	chr4:119243930-119243931	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs562115491	chr4:119243965-119243966	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs531071425	chr4:119243969-119243970	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs202019502	chr4:119244005-119244006	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs386678890	chr4:119244007-119244008	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs4833573	chr4:119244008-119244009	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
27	rs576581379	chr4:119244033-119244034	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs530791838	chr4:119244041-119244042	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs76739002	chr4:119244048-119244049	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs549284977	chr4:119244065-119244066	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375461325	chr4:119244066-119244067	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs540000209	chr4:119244093-119244094	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs539207113	chr4:119244095-119244096	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs148748066	chr4:119244213-119244214	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs368125509	chr4:119244230-119244231	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs142544120	chr4:119244271-119244272	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs536939323	chr4:119244278-119244279	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs557341235	chr4:119244300-119244301	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570642070	chr4:119244309-119244310	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs189165679	chr4:119244325-119244326	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs557901948	chr4:119244326-119244327	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs146014052	chr4:119244344-119244345	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs573207089	chr4:119244405-119244406	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs705840	chr4:119244569-119244570	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs192299603	chr4:119244606-119244607	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs567498479	chr4:119244636-119244637	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs544481931	chr4:119244728-119244729	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564476904	chr4:119244794-119244795	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs577932730	chr4:119244814-119244815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540400669	chr4:119244905-119244906	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119216400-119249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:119216600-119244000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:119217400-119243400	Weak transcription	Fetal Lung	lung
9	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:119233000-119246600	Weak transcription	Fetal Stomach	stomach
12	chr4:119234600-119243800	Weak transcription	NHDF-Ad	bronchial
13	chr4:119237600-119250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:119239800-119259200	Weak transcription	Fetal Brain Male	brain
15	chr4:119240400-119244400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:119240600-119243800	Weak transcription	Osteobl	bone
17	chr4:119240800-119246600	Weak transcription	NHLF	lung
18	chr4:119241000-119246200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:119241200-119248800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:119242400-119243800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:119242400-119243800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:119243000-119244000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:119243400-119245200	Enhancers	Fetal Lung	lung
24	chr4:119243800-119244400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:119243800-119244400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:119243800-119244600	Enhancers	NHDF-Ad	bronchial
27	chr4:119243800-119244800	Enhancers	Osteobl	bone
28	chr4:119243800-119252800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:119243800-119259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:119244000-119244200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:119244000-119244400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:119244000-119244400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:119244000-119244600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:119244000-119244800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:119244200-119244400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:119244200-119244600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:119244200-119244800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:119244200-119246200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:119244400-119244800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:119244400-119244800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:119244400-119245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:119244400-119246600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:119244400-119246600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:119244400-119246800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:119244600-119246200	Weak transcription	NHDF-Ad	bronchial
46	chr4:119244600-119246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:119244600-119246600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:119244800-119246200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:119244800-119248600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:119244800-119248600	Weak transcription	Osteobl	bone

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