Variant report

Variant	rs7995740
Chromosome Location	chr13:76227427-76227428
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	chr13:76222651..76225431-chr13:76226659..76228293,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006408	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10507832	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616974	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1323692	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1570542	0.92[ASN][1000 genomes]
rs1951832	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4885336	0.99[ASN][1000 genomes]
rs55825533	0.85[ASN][1000 genomes]
rs68028935	0.80[ASN][1000 genomes]
rs735822	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7996197	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9285297	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318364	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9593109	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600511	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600517	0.87[EUR][1000 genomes];0.90[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7995740	RP11-173B14.5	cis	lung	GTEx
rs7995740	RP11-173B14.5	cis	Nerve Tibial	GTEx
rs7995740	RP11-173B14.5	cis	Artery Tibial	GTEx
rs7995740	RP11-173B14.5	cis	Skin Sun Exposed Lower leg	GTEx
rs7995740	RP11-173B14.5	cis	Artery Aorta	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr13:76211600-76235600	Weak transcription	Ovary	ovary
3	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
4	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
5	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
6	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:76212400-76240400	Weak transcription	HMEC	breast
8	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
9	chr13:76213800-76235600	Weak transcription	Psoas Muscle	Psoas
10	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:76216200-76229400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:76222000-76230000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:76223000-76233200	Weak transcription	Primary B cells from cord blood	blood
14	chr13:76223200-76230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:76223200-76236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:76223400-76230800	Weak transcription	HSMMtube	muscle
17	chr13:76223600-76228400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:76223800-76230200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:76224600-76232400	Genic enhancers	Osteobl	bone
20	chr13:76225600-76227800	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr13:76225800-76228600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:76226000-76228400	Weak transcription	NHLF	lung
23	chr13:76226400-76228000	Enhancers	Fetal Brain Male	brain
24	chr13:76227000-76230000	Strong transcription	NH-A	brain
25	chr13:76227200-76227600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:76227200-76227600	Genic enhancers	NHDF-Ad	bronchial
27	chr13:76227200-76228200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:76227200-76228600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:76227200-76229000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:76227400-76230000	Strong transcription	HSMM	muscle

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