Variant report

No.	Distal block	Cell Line	Cell type
1	chr22:31431282..31433620-chr22:31481041..31483644,2	MCF-7	breast:
2	chr22:31430301..31432681-chr22:31434506..31436861,2	MCF-7	breast:
3	chr22:31364027..31366021-chr22:31431032..31432822,2	MCF-7	breast:
4	chr22:31431928..31434471-chr22:31449804..31451831,2	MCF-7	breast:
5	chr22:31429286..31431329-chr22:31431481..31433428,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12152151	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107402	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs55646570	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7284438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142236	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606794	0.83[ASN][1000 genomes]
rs9606799	0.88[ASN][1000 genomes]
rs9606806	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9609160	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9609163	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9609168	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs9609189	0.88[ASN][1000 genomes]
rs9609192	0.88[ASN][1000 genomes]
rs9609199	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9609197	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs9609197	TUG1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31430000-31434200	Weak transcription	HepG2	liver
2	chr22:31431400-31432600	Enhancers	Colon Smooth Muscle	Colon
3	chr22:31431600-31432400	Weak transcription	Fetal Intestine Small	intestine
4	chr22:31431600-31434600	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:31431800-31432400	Enhancers	Stomach Smooth Muscle	stomach
6	chr22:31431800-31432600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:31431800-31432600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr22:31431800-31432800	Enhancers	Fetal Muscle Leg	muscle
9	chr22:31431800-31432800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr22:31431800-31432800	Enhancers	NHEK	skin
11	chr22:31431800-31433000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:31431800-31433800	Enhancers	Duodenum Mucosa	Duodenum
13	chr22:31431800-31436000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr22:31431800-31437200	Enhancers	Fetal Stomach	stomach
15	chr22:31432000-31432400	Enhancers	Rectal Smooth Muscle	rectum
16	chr22:31432000-31433600	Enhancers	Placenta	Placenta
17	chr22:31432200-31432400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:31432200-31432600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:31432200-31432600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:31432200-31432800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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