Variant report

Variant	rs7578717
Chromosome Location	chr2:173928417-173928418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173925105..173930317-chr2:173940081..173942061,4	MCF-7	breast:
2	chr2:173924776..173926488-chr2:173927922..173930714,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction
ENSG00000265709	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7573673	0.94[ASN][1000 genomes]
rs989530	0.94[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7578717	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173915200-173929200	Weak transcription	Fetal Lung	lung
2	chr2:173920600-173937200	Weak transcription	Psoas Muscle	Psoas
3	chr2:173923800-173928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:173925200-173930400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:173925400-173928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:173926000-173928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:173926200-173928600	Weak transcription	HepG2	liver
8	chr2:173926200-173928800	Weak transcription	Liver	Liver
9	chr2:173926200-173930000	Weak transcription	Ovary	ovary
10	chr2:173927200-173929200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:173927600-173929000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:173927600-173929600	Enhancers	NHEK	skin
13	chr2:173927800-173928600	Weak transcription	Fetal Brain Male	brain
14	chr2:173927800-173929000	Enhancers	NHDF-Ad	bronchial
15	chr2:173927800-173929200	Enhancers	HMEC	breast
16	chr2:173927800-173929600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:173928200-173928600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:173928200-173928800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:173928200-173929000	Enhancers	Fetal Brain Female	brain
20	chr2:173928400-173932400	Weak transcription	Fetal Intestine Large	intestine

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