Variant report

Variant	rs62279988
Chromosome Location	chr3:154813713-154813714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:154808408..154811194-chr3:154811679..154814620,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10513468	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1370031	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442808	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273335	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4273336	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56189742	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56208271	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62279989	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62279990	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6763852	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868930	chr3:154076125-154820242	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154798800-154818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:154799000-154818600	Weak transcription	Placenta	Placenta
3	chr3:154799000-154818600	Weak transcription	HSMMtube	muscle
4	chr3:154799000-154819400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:154800000-154819400	Weak transcription	NHLF	lung
6	chr3:154800200-154824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:154800400-154819000	Weak transcription	Adipose Nuclei	Adipose
8	chr3:154800400-154820400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:154800400-154826800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:154805000-154816600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:154806200-154813800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:154807600-154823400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:154808200-154827200	Weak transcription	Fetal Intestine Large	intestine
14	chr3:154808400-154819200	Weak transcription	Fetal Kidney	kidney
15	chr3:154808600-154815200	Weak transcription	Liver	Liver
16	chr3:154808600-154819000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:154808800-154814000	Weak transcription	HSMM	muscle
18	chr3:154808800-154825400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:154810000-154814000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:154810000-154818400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:154811400-154816800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:154811600-154813800	Genic enhancers	Dnd41	blood
23	chr3:154811800-154821800	Weak transcription	Fetal Lung	lung
24	chr3:154812000-154813800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:154812000-154816600	Strong transcription	NHDF-Ad	bronchial
26	chr3:154812600-154817600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:154812800-154817200	Weak transcription	Thymus	Thymus
28	chr3:154812800-154818400	Weak transcription	Fetal Thymus	thymus
29	chr3:154813000-154814200	Weak transcription	Primary B cells from cord blood	blood
30	chr3:154813000-154816800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:154813200-154813800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:154813400-154813800	Strong transcription	Fetal Intestine Small	intestine
33	chr3:154813400-154817400	Strong transcription	Duodenum Mucosa	Duodenum

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