Variant report

Variant	rs1206503
Chromosome Location	chr7:121566232-121566233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1196479	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1196489	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1196509	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206479	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206484	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206485	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206489	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206491	1.00[ASN][1000 genomes]
rs1206496	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206498	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206499	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206508	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206510	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206512	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206513	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206518	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206519	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60700889	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73437106	1.00[EUR][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	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
2	esv3445804	chr7:121566103-121566306	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121545600-121571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:121562600-121566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:121563200-121566600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:121564600-121566800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:121565000-121566600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:121565200-121566400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:121565600-121567800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:121565600-121568600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:121565600-121571000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:121565800-121571000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:121565800-121571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:121565800-121571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:121565800-121576800	Weak transcription	Fetal Brain Female	brain
14	chr7:121566000-121567200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:121566000-121570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:121566000-121571600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:121566200-121566600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:121566200-121566600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:121566200-121566600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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