Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70663642..70666612-chr16:70674243..70676912,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11865702	0.83[AFR][1000 genomes]
rs12102388	1.00[EUR][1000 genomes]
rs12102523	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12102525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336968	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338169	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1902563	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393835	0.92[AFR][1000 genomes]
rs28434516	1.00[EUR][1000 genomes]
rs28780486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28814369	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28868985	0.83[AMR][1000 genomes]
rs59710171	1.00[AMR][1000 genomes]
rs60020150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60337219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60611474	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60774382	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186416	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575026	1.00[AMR][1000 genomes]
rs8056766	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061423	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063038	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9931347	0.85[AFR][1000 genomes]
rs9938385	0.91[AMR][1000 genomes];1.00[EUR][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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
2	chr16:70669400-70679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:70669600-70679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70669600-70679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
6	chr16:70670600-70680000	Weak transcription	Fetal Intestine Small	intestine
7	chr16:70673600-70680200	Weak transcription	Brain Anterior Caudate	brain
8	chr16:70673600-70680200	Weak transcription	HSMMtube	muscle
9	chr16:70673600-70683200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:70673600-70684000	Weak transcription	Esophagus	oesophagus
11	chr16:70673800-70680200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:70673800-70680200	Weak transcription	Fetal Stomach	stomach
13	chr16:70673800-70682800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:70674000-70680200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:70674000-70680200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:70674200-70680200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:70674200-70680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:70675200-70679000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:70676000-70676600	Bivalent Enhancer	HepG2	liver

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