Variant report

Variant	rs1206519
Chromosome Location	chr7:121583467-121583468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10230001	0.83[EUR][1000 genomes]
rs10247948	0.83[EUR][1000 genomes]
rs10272363	0.83[EUR][1000 genomes]
rs1196479	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196509	0.92[AMR][1000 genomes]
rs1206479	0.84[AMR][1000 genomes]
rs1206484	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206485	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206489	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206491	0.94[ASN][1000 genomes]
rs1206496	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206498	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206499	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206503	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206508	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206510	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206512	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206513	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206518	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28493707	0.83[EUR][1000 genomes]
rs28582021	0.83[EUR][1000 genomes]
rs60700889	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73717744	0.83[EUR][1000 genomes]
rs7809545	0.83[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
3	chr7:121579400-121585000	Weak transcription	Fetal Brain Male	brain
4	chr7:121580200-121585600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:121582200-121585000	Weak transcription	HMEC	breast
6	chr7:121582200-121590200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:121582200-121591600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:121582200-121595000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:121582400-121583800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:121582400-121583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:121582400-121591800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:121582600-121583600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:121582600-121584000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:121582600-121617600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:121582800-121583800	Weak transcription	NHEK	skin
16	chr7:121582800-121584800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:121582800-121585600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:121582800-121585600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:121582800-121590200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:121583000-121583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:121583000-121585000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:121583000-121585600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:121583000-121585600	Weak transcription	Fetal Brain Female	brain
24	chr7:121583000-121588200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:121583000-121592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:121583000-121592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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