Variant report

Variant	rs7988966
Chromosome Location	chr13:76223413-76223414
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	chr13:76222651..76225431-chr13:76226659..76228293,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1006412	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17704212	0.88[EUR][1000 genomes]
rs1951831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2093751	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34444653	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7317170	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73225909	0.85[EUR][1000 genomes]
rs735821	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9565179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9573596	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9573597	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9573601	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7988966	RP11-173B14.5	cis	Artery Tibial	GTEx
rs7988966	RP11-173B14.5	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
2	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr13:76211600-76235600	Weak transcription	Ovary	ovary
4	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
5	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
6	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
7	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:76212400-76240400	Weak transcription	HMEC	breast
9	chr13:76212800-76224600	Weak transcription	Fetal Kidney	kidney
10	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
11	chr13:76213800-76235600	Weak transcription	Psoas Muscle	Psoas
12	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:76215600-76223600	Genic enhancers	Muscle Satellite Cultured Cells	--
14	chr13:76216200-76229400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:76217400-76223800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:76219800-76223800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:76220200-76223800	Genic enhancers	Osteobl	bone
18	chr13:76221200-76223600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:76222000-76226400	Weak transcription	Fetal Brain Male	brain
20	chr13:76222000-76226400	Strong transcription	HSMM	muscle
21	chr13:76222000-76230000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:76222800-76223600	Genic enhancers	NHDF-Ad	bronchial
23	chr13:76222800-76223800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:76223000-76233200	Weak transcription	Primary B cells from cord blood	blood
25	chr13:76223200-76225600	Weak transcription	NHLF	lung
26	chr13:76223200-76230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:76223200-76236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:76223400-76223600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:76223400-76224600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:76223400-76226000	Weak transcription	GM12878-XiMat	blood
31	chr13:76223400-76226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:76223400-76227000	Weak transcription	NH-A	brain
33	chr13:76223400-76230800	Weak transcription	HSMMtube	muscle

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