Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129174530..129176611-chr7:129248438..129250911,2	K562	blood:

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

rs_ID	r²[population]
rs12706888	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34637187	0.80[ASN][1000 genomes]
rs4731588	0.80[ASN][1000 genomes]
rs4731590	0.80[ASN][1000 genomes]
rs55738605	0.91[ASN][1000 genomes]
rs61069592	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61120971	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61411560	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62490876	0.90[ASN][1000 genomes]
rs658094	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs691760	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs691989	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs692260	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs692357	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs692479	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs692490	0.95[EUR][1000 genomes]
rs712735	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs712736	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73157681	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9641852	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129169400-129174800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:129171200-129175200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:129172200-129175400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:129172400-129175800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129172600-129176000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:129173800-129178400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:129174000-129180400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:129174200-129176000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:129174400-129175200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:129174400-129175400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:129174400-129176400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:129174400-129177200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:129174600-129176000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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