Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:127755171..127759390-chr7:127760267..127762582,4	K562	blood:
2	chr7:127749559..127751658-chr7:127755944..127759580,3	K562	blood:
3	chr7:127752221..127755184-chr7:127757335..127759629,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10258271	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10954167	0.81[EUR][1000 genomes]
rs11979599	0.81[EUR][1000 genomes]
rs17735366	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322734	0.81[EUR][1000 genomes]
rs3808053	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4728088	0.81[EUR][1000 genomes]
rs4731400	0.83[EUR][1000 genomes]
rs4731403	0.81[EUR][1000 genomes]
rs4731405	0.81[EUR][1000 genomes]
rs57463770	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59096474	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60087663	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226605	0.83[EUR][1000 genomes]
rs73226606	0.83[EUR][1000 genomes]
rs73226613	0.82[EUR][1000 genomes]
rs73238099	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238100	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73239707	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239713	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73239720	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7790439	0.83[EUR][1000 genomes]
rs7790858	0.83[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	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
2	chr7:127753400-127762000	Weak transcription	Fetal Brain Female	brain
3	chr7:127755600-127758000	Enhancers	Spleen	Spleen
4	chr7:127756000-127759000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:127756000-127761400	Weak transcription	Osteobl	bone
6	chr7:127756000-127762000	Weak transcription	HSMM	muscle
7	chr7:127756200-127758800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:127756200-127761800	Weak transcription	Esophagus	oesophagus
9	chr7:127756600-127761200	Weak transcription	NHEK	skin
10	chr7:127756600-127761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:127757000-127759200	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:127757200-127758600	Enhancers	Primary B cells from cord blood	blood
13	chr7:127757200-127760600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:127757200-127761000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:127757400-127759600	Enhancers	Fetal Thymus	thymus

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