Variant report

Variant	rs7998964
Chromosome Location	chr13:48788990-48788991
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	chr13:48784546..48786736-chr13:48788727..48791333,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11839064	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1359861	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17071466	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1752134	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1854177	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2406803	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765076	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35537731	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890027	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4500616	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942755	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4942756	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942758	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551034	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56762281	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs637390	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs637831	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7318104	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7322824	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73485008	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7981621	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7982500	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7984127	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7987321	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988173	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7988389	0.87[ASN][1000 genomes]
rs7994451	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8000847	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526458	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9526459	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534981	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9534986	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956169	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591144	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591146	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1031	chr13:48766510-48790172	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48784200-48792600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:48784800-48791400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr13:48785000-48790000	Weak transcription	Osteobl	bone
4	chr13:48788400-48789200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:48788400-48789200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr13:48788600-48789000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:48788600-48789000	Enhancers	HMEC	breast
8	chr13:48788600-48789200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr13:48788600-48791600	Enhancers	Fetal Intestine Small	intestine
10	chr13:48788800-48789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:48788800-48789200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr13:48788800-48789200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:48788800-48789200	Enhancers	Esophagus	oesophagus
14	chr13:48788800-48789400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:48788800-48790000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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