Variant report

Variant	rs1206480
Chromosome Location	chr7:121547787-121547788
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1007522	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1007784	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1011693	0.87[ASN][1000 genomes]
rs11978007	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1206473	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1206477	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1206481	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206482	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206483	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206486	0.86[ASN][1000 genomes]
rs1206487	0.88[ASN][1000 genomes]
rs1206488	0.88[ASN][1000 genomes]
rs1206490	0.88[ASN][1000 genomes]
rs1206492	0.88[ASN][1000 genomes]
rs1206494	0.88[ASN][1000 genomes]
rs1916880	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1916883	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1916886	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1916887	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1916888	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1916889	0.84[EUR][1000 genomes]
rs3757550	0.87[EUR][1000 genomes]
rs740960	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs740964	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7778179	0.81[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	esv2516212	chr7:121546638-121548171	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121522600-121550000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121523200-121552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:121528000-121550000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:121531200-121558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:121532400-121549200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:121534800-121554200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:121541000-121552000	Weak transcription	NHEK	skin
8	chr7:121541200-121552200	Weak transcription	Fetal Brain Female	brain
9	chr7:121541400-121549000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:121542200-121553200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:121542400-121549000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:121543600-121549400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:121545600-121551400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:121545600-121571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:121545800-121549800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:121546000-121548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:121546000-121550000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:121546000-121553600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:121546200-121549200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:121546800-121549000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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