Variant report

Variant	rs73226605
Chromosome Location	chr7:127777374-127777375
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127770664..127774572-chr7:127774612..127778986,4	K562	blood:
2	chr7:127775629..127777562-chr7:127847751..127849671,2	MCF-7	breast:
3	chr7:127776325..127778425-chr7:127848466..127850117,2	K562	blood:
4	chr7:127773375..127775632-chr7:127776520..127778934,2	K562	blood:
5	chr7:127770457..127772622-chr7:127774413..127777391,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207705	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10258271	0.85[EUR][1000 genomes]
rs10954167	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954168	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11979599	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17735366	0.83[EUR][1000 genomes]
rs322734	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4454232	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728088	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731400	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731403	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731405	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57463770	0.81[EUR][1000 genomes]
rs73226606	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226613	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226620	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239713	0.81[EUR][1000 genomes]
rs73239718	0.83[EUR][1000 genomes]
rs73239720	0.85[EUR][1000 genomes]
rs7790439	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790858	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127776400-127777400	Bivalent Enhancer	Fetal Thymus	thymus
2	chr7:127776400-127777400	Enhancers	Spleen	Spleen
3	chr7:127776600-127777400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:127776600-127777400	Enhancers	Pancreas	Pancrea
5	chr7:127776600-127777600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:127776600-127777600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr7:127776600-127777600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:127776600-127777600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr7:127776600-127777600	Bivalent Enhancer	Placenta	Placenta
10	chr7:127776600-127778000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr7:127776800-127777600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:127776800-127777800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:127777000-127777800	Bivalent Enhancer	HUVEC	blood vessel
14	chr7:127777200-127777400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:127777200-127777400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:127777200-127777400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:127777200-127777400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr7:127777200-127777400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:127777200-127777400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:127777200-127777400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr7:127777200-127777400	Bivalent Enhancer	Osteobl	bone
22	chr7:127777200-127777600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr7:127777200-127777600	Bivalent Enhancer	Fetal Kidney	kidney

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