Variant report

Variant	rs6846000
Chromosome Location	chr4:121731196-121731197
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10857073	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857074	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1397767	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1567552	0.84[AFR][1000 genomes]
rs171067	0.86[AFR][1000 genomes]
rs2102551	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2251270	0.91[AMR][1000 genomes]
rs2597553	0.87[AMR][1000 genomes]
rs2667170	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2667192	0.91[AMR][1000 genomes]
rs3114953	0.80[AMR][1000 genomes]
rs343173	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs343176	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs343177	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs343183	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833673	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6828945	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs843557	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs907295	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9991423	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv879856	chr4:121697932-121737767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6846000	PRDM5	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:121720600-121731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:121722800-121733000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:121722800-121737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:121723000-121738000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:121723600-121743000	Weak transcription	Fetal Heart	heart
7	chr4:121726400-121743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:121727200-121739000	Weak transcription	Gastric	stomach
9	chr4:121728200-121732000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr4:121728600-121732200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:121728800-121732000	Strong transcription	Fetal Lung	lung
12	chr4:121729000-121738000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:121729200-121737400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:121729400-121737400	Weak transcription	Left Ventricle	heart
15	chr4:121729600-121731400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr4:121729600-121731800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:121729800-121731200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:121730200-121737400	Weak transcription	Ovary	ovary
20	chr4:121730200-121737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:121730200-121744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:121730200-121753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:121730400-121737400	Weak transcription	Lung	lung
24	chr4:121730400-121737600	Weak transcription	Aorta	Aorta
25	chr4:121730400-121745800	Weak transcription	Fetal Stomach	stomach
26	chr4:121730400-121746600	Weak transcription	Fetal Intestine Large	intestine
27	chr4:121730400-121760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:121730400-121760800	Weak transcription	Pancreas	Pancrea
29	chr4:121730600-121731400	Strong transcription	NHDF-Ad	bronchial
30	chr4:121730800-121731600	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr4:121730800-121731800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr4:121730800-121732000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr4:121731000-121731400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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