Variant report

Variant	rs73843619
Chromosome Location	chr4:121737839-121737840
allele	C/T
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	MAFK	chr4:121737725-121737908	HepG2	liver:	n/a	n/a
2	SPI1	chr4:121737471-121738059	HL-60	blood:	n/a	n/a
3	MAFF	chr4:121737702-121737847	HepG2	liver:	n/a	n/a
4	MYC	chr4:121737650-121738110	NB4	blood:	n/a	n/a
5	MAFK	chr4:121737759-121737847	HepG2	liver:	n/a	n/a
6	SPI1	chr4:121737639-121737934	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
PRDM5	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs34666716	1.00[AFR][1000 genomes]
rs55774575	0.93[AFR][1000 genomes]
rs55847539	1.00[AFR][1000 genomes]
rs55899802	0.87[AFR][1000 genomes]
rs56224440	0.87[AFR][1000 genomes]
rs56748639	0.93[AFR][1000 genomes]
rs61548510	0.93[AFR][1000 genomes]
rs61648672	1.00[AFR][1000 genomes]
rs6534208	1.00[AFR][1000 genomes]
rs6534209	1.00[AFR][1000 genomes]
rs6534212	1.00[AFR][1000 genomes]
rs6828115	1.00[AFR][1000 genomes]
rs6830205	1.00[AFR][1000 genomes]
rs73843606	0.93[AFR][1000 genomes]
rs73843607	0.93[AFR][1000 genomes]
rs73843611	1.00[AFR][1000 genomes]
rs73843615	0.85[AFR][1000 genomes]
rs73843616	1.00[AFR][1000 genomes]
rs73843617	1.00[AFR][1000 genomes]
rs73843620	1.00[AFR][1000 genomes]
rs73843621	1.00[AFR][1000 genomes]
rs73843624	0.93[AFR][1000 genomes]
rs73843626	0.93[AFR][1000 genomes]
rs73843627	1.00[AFR][1000 genomes]
rs73843634	1.00[AFR][1000 genomes]
rs73843635	1.00[AFR][1000 genomes]
rs73843644	0.87[AFR][1000 genomes]
rs73843647	0.87[AFR][1000 genomes]
rs73843651	0.87[AFR][1000 genomes]
rs73843653	0.87[AFR][1000 genomes]
rs73845481	0.93[AFR][1000 genomes]
rs73845489	0.93[AFR][1000 genomes]
rs73845497	0.93[AFR][1000 genomes]
rs73845498	0.86[AFR][1000 genomes]
rs73847105	0.93[AFR][1000 genomes]
rs7696159	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv879855	chr4:121691899-121747335	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv879857	chr4:121697932-121747335	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv879858	chr4:121703336-121747335	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121723000-121738000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:121723600-121743000	Weak transcription	Fetal Heart	heart
3	chr4:121726400-121743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:121727200-121739000	Weak transcription	Gastric	stomach
5	chr4:121729000-121738000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:121730200-121744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:121730200-121753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:121730400-121745800	Weak transcription	Fetal Stomach	stomach
10	chr4:121730400-121746600	Weak transcription	Fetal Intestine Large	intestine
11	chr4:121730400-121760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:121730400-121760800	Weak transcription	Pancreas	Pancrea
13	chr4:121731200-121752400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:121731400-121742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:121731600-121739800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:121731600-121743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:121731800-121743200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:121731800-121743200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:121731800-121746200	Weak transcription	Fetal Intestine Small	intestine
20	chr4:121732000-121743400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:121732000-121746200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:121732000-121747600	Weak transcription	Fetal Lung	lung
23	chr4:121732200-121754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:121733400-121744800	Weak transcription	Right Ventricle	heart
25	chr4:121734000-121738200	Weak transcription	NHEK	skin
26	chr4:121736200-121738400	Active TSS	Primary hematopoietic stem cells	blood
27	chr4:121736200-121738600	Active TSS	Primary B cells from cord blood	blood
28	chr4:121737400-121738200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:121737400-121738200	Active TSS	Ovary	ovary
30	chr4:121737400-121738400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:121737400-121738400	Active TSS	Fetal Muscle Leg	muscle
32	chr4:121737400-121738600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:121737400-121738600	Active TSS	NHDF-Ad	bronchial
34	chr4:121737400-121751400	Weak transcription	Psoas Muscle	Psoas
35	chr4:121737600-121738000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:121737600-121738200	Active TSS	Hela-S3	cervix
37	chr4:121737600-121759800	Weak transcription	Lung	lung
38	chr4:121737800-121738000	Strong transcription	Left Ventricle	heart
39	chr4:121737800-121738000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr4:121737800-121738200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr4:121737800-121738200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:121737800-121738200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr4:121737800-121738200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr4:121737800-121740200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:121737800-121754400	Weak transcription	Aorta	Aorta

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