Variant report

Variant	rs1323692
Chromosome Location	chr13:76214458-76214459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:76214388-76214535	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76208613..76210805-chr13:76214150..76216222,2	MCF-7	breast:
2	chr13:76210811..76212641-chr13:76212952..76214964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261105	TF binding region
ENSG00000136153	Chromatin interaction
ENSG00000261105	Chromatin interaction

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

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

rs_ID	r²[population]
rs1006408	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10507832	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11616974	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1570542	0.97[ASN][1000 genomes]
rs1951832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885336	0.90[ASN][1000 genomes]
rs55825533	0.94[ASN][1000 genomes]
rs68028935	0.89[ASN][1000 genomes]
rs735822	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7995740	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7996197	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9285297	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9318364	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9593109	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600511	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600517	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[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
rs1323692	RP11-173B14.5	cis	Skin Sun Exposed Lower leg	GTEx
rs1323692	RP11-173B14.5	cis	Artery Tibial	GTEx
rs1323692	RP11-173B14.5	cis	lung	GTEx
rs1323692	RP11-173B14.5	cis	Artery Aorta	GTEx
rs1323692	RP11-173B14.5	cis	Nerve Tibial	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76208600-76215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
3	chr13:76211400-76215600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
4	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
5	chr13:76211600-76215800	Weak transcription	Gastric	stomach
6	chr13:76211600-76215800	Transcr. at gene 5' and 3'	Osteobl	bone
7	chr13:76211600-76216200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:76211600-76235600	Weak transcription	Ovary	ovary
10	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
11	chr13:76211800-76214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:76211800-76215200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:76211800-76215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:76211800-76215600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:76211800-76217800	Weak transcription	NHEK	skin
16	chr13:76211800-76218800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
18	chr13:76212000-76223200	Weak transcription	Fetal Stomach	stomach
19	chr13:76212200-76216200	Weak transcription	HUVEC	blood vessel
20	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
21	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:76212400-76240400	Weak transcription	HMEC	breast
23	chr13:76212600-76215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr13:76212600-76217800	Weak transcription	Dnd41	blood
25	chr13:76212600-76222800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:76212800-76224600	Weak transcription	Fetal Kidney	kidney
27	chr13:76213000-76221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:76213400-76215600	Enhancers	GM12878-XiMat	blood
29	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
30	chr13:76213800-76214600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr13:76213800-76215200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:76213800-76235600	Weak transcription	Psoas Muscle	Psoas
33	chr13:76214000-76215400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:76214000-76215400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:76214200-76214800	Enhancers	NH-A	brain
36	chr13:76214400-76214600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:76214400-76214600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:76214400-76214600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:76214400-76214600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:76214400-76214600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr13:76214400-76214800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr13:76214400-76214800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:76214400-76214800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:76214400-76214800	Transcr. at gene 5' and 3'	HSMM	muscle
45	chr13:76214400-76215200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr13:76214400-76215200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr13:76214400-76215400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:76214400-76215800	Genic enhancers	NHLF	lung

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