Variant report

Variant	rs1442194
Chromosome Location	chr12:41328240-41328241
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10506181	0.86[AMR][1000 genomes]
rs11832384	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1372540	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1372543	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1442178	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1442181	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1442185	0.83[EUR][1000 genomes]
rs1442191	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17128906	0.83[EUR][1000 genomes]
rs17128908	0.83[EUR][1000 genomes]
rs17128913	0.83[EUR][1000 genomes]
rs17128925	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17128926	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17128929	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128930	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17128977	0.86[AMR][1000 genomes]
rs17128987	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128997	0.86[AMR][1000 genomes]
rs1928560	0.83[EUR][1000 genomes]
rs2304818	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767991	0.83[EUR][1000 genomes]
rs4767993	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768318	0.83[EUR][1000 genomes]
rs4768320	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768322	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768323	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768324	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768325	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55927654	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55994689	0.84[AMR][1000 genomes]
rs56333303	0.84[AMR][1000 genomes]
rs73111395	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73116958	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73116975	0.84[AMR][1000 genomes]
rs73116987	0.84[AMR][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41297200-41338600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:41297400-41328600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:41297400-41338600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:41297400-41346400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:41305800-41336200	Weak transcription	NHEK	skin
6	chr12:41313400-41338400	Weak transcription	A549	lung
7	chr12:41317800-41356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:41318400-41341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:41318600-41334400	Weak transcription	Fetal Lung	lung
10	chr12:41321800-41344600	Weak transcription	Ovary	ovary
11	chr12:41322400-41336000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:41322600-41337800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:41323200-41331000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:41327400-41328800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:41328200-41338600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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