Variant report

Variant	rs9834252
Chromosome Location	chr3:98221653-98221654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98213211..98215290-chr3:98220097..98221858,2	MCF-7	breast:
2	chr3:98215572..98217711-chr3:98220666..98222883,2	K562	blood:

Variant related genes	Relation type
ENSG00000231861	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1461155	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1529046	0.82[YRI][hapmap]
rs16839845	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2230344	1.00[YRI][hapmap]
rs2306065	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6799550	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6807441	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9811242	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9819403	1.00[ASW][hapmap];0.89[CEU][hapmap];0.89[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9833557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834774	chr3:98108423-98274064	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9834252	VWDE	trans	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98206800-98240800	Weak transcription	Pancreas	Pancrea
2	chr3:98214000-98225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:98216800-98235400	Weak transcription	Left Ventricle	heart
4	chr3:98217600-98225400	Weak transcription	Aorta	Aorta
5	chr3:98217600-98229000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:98219200-98233200	Weak transcription	Psoas Muscle	Psoas
7	chr3:98220200-98221800	Enhancers	NHEK	skin
8	chr3:98220200-98226600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:98220400-98225200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:98220400-98229000	Weak transcription	Primary T cells from cord blood	blood
11	chr3:98220400-98230800	Weak transcription	Adipose Nuclei	Adipose
12	chr3:98220400-98235400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:98220400-98235400	Weak transcription	Gastric	stomach
14	chr3:98220400-98235400	Weak transcription	Spleen	Spleen
15	chr3:98220600-98229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:98220600-98230600	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:98220800-98222400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:98220800-98228600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:98220800-98233400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:98221000-98238200	Weak transcription	Small Intestine	intestine
21	chr3:98221200-98222000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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