Variant report

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs169564	1.00[EUR][1000 genomes]
rs2446145	0.83[EUR][1000 genomes]
rs2599254	1.00[EUR][1000 genomes]
rs2608698	0.83[EUR][1000 genomes]
rs2608699	0.83[EUR][1000 genomes]
rs2608713	0.83[EUR][1000 genomes]
rs2608717	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2730812	1.00[EUR][1000 genomes]
rs2730815	0.83[EUR][1000 genomes]
rs2730825	0.83[EUR][1000 genomes]
rs2730831	1.00[EUR][1000 genomes]
rs2730832	1.00[EUR][1000 genomes]
rs2733288	0.83[EUR][1000 genomes]
rs285551	1.00[EUR][1000 genomes]
rs285552	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285553	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285554	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285558	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285559	0.99[EUR][1000 genomes]
rs285570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285573	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285576	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285588	1.00[EUR][1000 genomes]
rs285589	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs285591	0.83[EUR][1000 genomes]
rs285594	0.95[EUR][1000 genomes]
rs285596	0.99[EUR][1000 genomes]
rs285597	1.00[EUR][1000 genomes]
rs287087	1.00[EUR][1000 genomes]
rs392217	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41898600-41915400	Weak transcription	Aorta	Aorta
2	chr12:41902400-41915000	Weak transcription	Brain Anterior Caudate	brain
3	chr12:41904600-41915600	Weak transcription	Fetal Kidney	kidney
4	chr12:41905200-41916400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:41907800-41915400	Weak transcription	Fetal Stomach	stomach
6	chr12:41908000-41915400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:41908000-41915800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:41908200-41915400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:41908600-41915400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:41908800-41915000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:41908800-41915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:41909600-41915400	Weak transcription	Brain Substantia Nigra	brain
13	chr12:41909800-41915400	Weak transcription	Brain Germinal Matrix	brain
14	chr12:41910200-41915600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:41910400-41915000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:41910600-41915600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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