Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38083796..38085329-chr19:38149997..38151871,2	MCF-7	breast:
2	chr19:38145451..38150086-chr19:38150215..38155612,4	K562	blood:

Variant related genes	Relation type
ENSG00000120784	Chromatin interaction

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10445548	0.84[EUR][1000 genomes]
rs1061753	0.82[EUR][1000 genomes]
rs1061756	0.81[EUR][1000 genomes]
rs17244713	0.80[EUR][1000 genomes]
rs17244769	0.81[EUR][1000 genomes]
rs17303902	0.82[EUR][1000 genomes]
rs17304703	0.84[EUR][1000 genomes]
rs17305193	0.83[EUR][1000 genomes]
rs17305228	0.83[EUR][1000 genomes]
rs17305823	0.84[EUR][1000 genomes]
rs1871196	0.83[EUR][1000 genomes]
rs2058852	0.93[ASN][1000 genomes]
rs2291001	0.84[EUR][1000 genomes]
rs2306201	0.83[EUR][1000 genomes]
rs35153242	0.84[EUR][1000 genomes]
rs55681348	0.84[EUR][1000 genomes]
rs55718806	0.83[EUR][1000 genomes]
rs55743020	0.82[EUR][1000 genomes]
rs55754546	0.82[EUR][1000 genomes]
rs55865869	0.84[EUR][1000 genomes]
rs55909413	0.84[EUR][1000 genomes]
rs56077756	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57654288	0.83[EUR][1000 genomes]
rs62108306	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7255313	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7259272	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73031330	0.82[EUR][1000 genomes]
rs73033122	0.84[EUR][1000 genomes]
rs73033134	0.83[EUR][1000 genomes]
rs73033142	0.83[EUR][1000 genomes]
rs73035159	0.84[EUR][1000 genomes]
rs73035160	0.84[EUR][1000 genomes]
rs8101610	0.84[EUR][1000 genomes]
rs8104282	0.84[EUR][1000 genomes]
rs8104994	0.84[EUR][1000 genomes]
rs8108268	0.82[EUR][1000 genomes]
rs8111790	0.84[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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs62108291	AC012309.5	cis	Esophagus Mucosa	GTEx
rs62108291	AC012309.5	cis	Esophagus Muscularis	GTEx
rs62108291	HKR1	cis	Whole Blood	GTEx
rs62108291	AC012309.5	cis	Artery Tibial	GTEx
rs62108291	AC012309.5	cis	Thyroid	GTEx
rs62108291	ZNF781	cis	Thyroid	GTEx
rs62108291	AC012309.5	cis	Heart Left Ventricle	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38147400-38151400	Weak transcription	Ovary	ovary
2	chr19:38147400-38152800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:38147600-38150400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:38147600-38151400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:38147600-38151400	Weak transcription	Psoas Muscle	Psoas
6	chr19:38147600-38151600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:38147600-38153000	Weak transcription	Brain Substantia Nigra	brain
8	chr19:38147600-38153800	Weak transcription	Brain Anterior Caudate	brain
9	chr19:38147600-38155800	Weak transcription	Brain Germinal Matrix	brain
10	chr19:38147600-38156400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr19:38148000-38151400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:38148200-38153800	Weak transcription	Fetal Brain Female	brain
13	chr19:38148400-38151800	Weak transcription	Primary T cells from cord blood	blood
14	chr19:38149600-38153800	Weak transcription	Dnd41	blood
15	chr19:38149800-38151200	Weak transcription	Primary hematopoietic stem cells	blood

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