Variant report

Variant	rs6722596
Chromosome Location	chr2:37591738-37591739
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:37591594-37591842	T-47D	breast:	n/a	n/a
2	FOXA1	chr2:37591549-37591871	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37584645..37586167-chr2:37590835..37592610,2	K562	blood:
2	chr2:37586244..37588961-chr2:37590934..37592508,2	K562	blood:

Variant related genes	Relation type
QPCT	TF binding region
ENSG00000115828	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11902200	1.00[EUR][1000 genomes]
rs17020573	1.00[EUR][1000 genomes]
rs2058718	1.00[EUR][1000 genomes]
rs6756313	1.00[EUR][1000 genomes]
rs72864855	0.80[AFR][1000 genomes]
rs72864856	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72864858	1.00[EUR][1000 genomes]
rs72864863	1.00[EUR][1000 genomes]
rs72864877	1.00[EUR][1000 genomes]
rs72864880	1.00[EUR][1000 genomes]
rs72864889	1.00[EUR][1000 genomes]
rs73924611	1.00[EUR][1000 genomes]
rs7564929	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584351	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596533	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7603787	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606760	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606958	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37572600-37595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:37577400-37607000	Weak transcription	Spleen	Spleen
3	chr2:37578200-37605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:37578400-37604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:37578600-37601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:37578800-37602200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:37579800-37592600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:37579800-37603000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:37580200-37603400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:37581600-37595600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:37583600-37607200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:37589200-37593800	Weak transcription	Esophagus	oesophagus
13	chr2:37589200-37602800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:37589400-37592200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:37589400-37592400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:37589800-37602800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:37590200-37592400	Weak transcription	Psoas Muscle	Psoas
18	chr2:37590200-37594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:37590400-37592400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:37591200-37593200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:37591400-37594000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:37591600-37595600	Weak transcription	Gastric	stomach
23	chr2:37591600-37598200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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