Variant report

Variant	rs1206513
Chromosome Location	chr7:121576425-121576426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1196479	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1196489	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1196509	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206479	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206484	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206485	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206489	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206491	0.94[ASN][1000 genomes]
rs1206496	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206498	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206503	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206518	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206519	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60700889	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73437106	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121565800-121576800	Weak transcription	Fetal Brain Female	brain
2	chr7:121571400-121577400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:121571800-121576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:121571800-121578400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
7	chr7:121572000-121576600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:121572000-121576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:121572000-121576800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:121572000-121576800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:121573000-121576600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:121573000-121577000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:121574000-121582400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:121574200-121581200	Weak transcription	Brain Germinal Matrix	brain
15	chr7:121575000-121577200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:121575000-121579000	Weak transcription	NHEK	skin
17	chr7:121575600-121576600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:121575600-121578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:121575600-121581000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:121575800-121578200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:121575800-121578200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:121576000-121577200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:121576000-121577600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:121576000-121577600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:121576200-121576600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:121576200-121577200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:121576200-121579800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:121576400-121576600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:121576400-121577400	Enhancers	Fetal Intestine Large	intestine
30	chr7:121576400-121577800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:121576400-121578000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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