Variant report

Variant	rs1206518
Chromosome Location	chr7:121582103-121582104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121581530..121583075-chr7:121585844..121587715,2	K562	blood:
2	chr7:121581236..121583075-chr7:121586050..121587715,2	K562	blood:

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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196489	1.00[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]
rs1206519	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	0.93[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:31 , 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	chr7:121574000-121582400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:121576600-121582800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:121577000-121582400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:121578400-121582400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:121578400-121582600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:121578600-121582800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:121578600-121583000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:121578800-121583000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:121579000-121583000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:121579000-121583000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:121579200-121582200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:121579400-121583000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:121579400-121583000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:121579400-121585000	Weak transcription	Fetal Brain Male	brain
17	chr7:121580200-121585600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:121580400-121582800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr7:121580800-121582200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:121581000-121582200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:121581000-121582800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:121581200-121582200	Enhancers	Brain Germinal Matrix	brain
23	chr7:121581200-121582600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:121581200-121582600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:121581200-121582800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:121581400-121582800	Enhancers	NHEK	skin
27	chr7:121581400-121583000	Enhancers	Fetal Brain Female	brain
28	chr7:121581600-121583200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:121581800-121582200	Enhancers	HMEC	breast
30	chr7:121582000-121582200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:121582000-121582200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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