Variant report

Variant	rs12060221
Chromosome Location	chr1:93911011-93911012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93908948..93911558-chr1:94050330..94052769,2	MCF-7	breast:
2	chr1:93910284..93912598-chr1:93914340..93918021,4	K562	blood:
3	chr1:93909973..93912859-chr1:94016943..94019363,2	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1079750	0.80[EUR][1000 genomes]
rs11164922	0.81[EUR][1000 genomes]
rs11164926	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164930	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164940	0.83[EUR][1000 genomes]
rs11811006	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12062584	0.84[EUR][1000 genomes]
rs12069440	0.86[EUR][1000 genomes]
rs12086857	0.82[EUR][1000 genomes]
rs12096122	0.86[EUR][1000 genomes]
rs12096561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409932	0.80[EUR][1000 genomes]
rs1582773	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17109951	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109997	0.84[EUR][1000 genomes]
rs17387059	0.80[EUR][1000 genomes]
rs1895903	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2011212	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081568	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2624437	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57710451	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59792151	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61101021	0.81[EUR][1000 genomes]
rs61580948	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688111	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67012296	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67998457	0.81[EUR][1000 genomes]
rs72721009	0.83[EUR][1000 genomes]
rs72721010	0.83[EUR][1000 genomes]
rs72721014	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72721019	0.83[EUR][1000 genomes]
rs72961351	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7339890	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7539210	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541984	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553695	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900310	0.90[EUR][1000 genomes];0.91[ASN][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93901000-93912800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93901200-93912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:93901800-93912800	Weak transcription	NH-A	brain
4	chr1:93904200-93912200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:93906400-93912000	Weak transcription	HepG2	liver
6	chr1:93908200-93912400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:93908200-93912400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:93908200-93912400	Weak transcription	Pancreas	Pancrea
9	chr1:93908200-93912400	Weak transcription	HMEC	breast
10	chr1:93908400-93911800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:93908400-93912200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:93908400-93912400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:93908600-93912000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:93908600-93912000	Weak transcription	K562	blood
15	chr1:93908600-93912200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:93908600-93912200	Weak transcription	Fetal Intestine Large	intestine
17	chr1:93908600-93912400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:93908600-93912400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:93908600-93912600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:93908600-93912800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:93909400-93912200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:93909400-93912200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:93909400-93912200	Weak transcription	NHEK	skin
24	chr1:93909400-93912400	Weak transcription	Stomach Mucosa	stomach
25	chr1:93909400-93912400	Weak transcription	Hela-S3	cervix
26	chr1:93909600-93912400	Weak transcription	A549	lung
27	chr1:93909600-93912600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:93910400-93911200	Weak transcription	Placenta Amnion	Placenta Amnion

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