Variant report

Variant	rs1442192
Chromosome Location	chr12:41336447-41336448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41334681..41337499-chr12:41339129..41340865,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10879395	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10879396	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10879417	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10879421	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10879442	0.82[JPT][hapmap]
rs10879443	0.82[JPT][hapmap]
rs10879450	0.84[ASN][1000 genomes]
rs11178982	0.81[CHB][hapmap];0.93[CHD][hapmap]
rs11179168	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12296676	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1372538	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1372542	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1372544	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1442188	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1442189	0.84[ASN][1000 genomes]
rs17621741	0.81[CHB][hapmap];0.97[CHD][hapmap]
rs17622354	0.81[AFR][1000 genomes]
rs2289522	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs278918	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs278919	0.81[ASN][1000 genomes]
rs278921	0.85[ASN][1000 genomes]
rs3794247	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794248	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs391052	0.81[ASN][1000 genomes]
rs4767994	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767995	0.83[ASN][1000 genomes]
rs7311085	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7314287	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7955172	0.82[EUR][1000 genomes];0.84[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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv826346	chr12:41313148-41374833	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1442192	CNTN1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41297200-41338600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:41297400-41338600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:41297400-41346400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:41313400-41338400	Weak transcription	A549	lung
5	chr12:41317800-41356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:41318400-41341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:41321800-41344600	Weak transcription	Ovary	ovary
8	chr12:41322600-41337800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:41328200-41338600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:41329200-41337600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:41332000-41339600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:41333400-41352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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