Variant report

Variant	rs12303163
Chromosome Location	chr12:44409858-44409859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10161163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10161301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506233	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182363	1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs11182371	1.00[CHB][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs11182376	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182389	1.00[CHB][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182401	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182410	1.00[CHB][hapmap]
rs12099550	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12296939	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[MKK][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297529	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297544	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12301421	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302401	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302578	1.00[ASN][1000 genomes]
rs12303870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304783	1.00[ASN][1000 genomes]
rs12306873	1.00[CHB][hapmap]
rs12307644	1.00[CHB][hapmap]
rs12308508	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12308564	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12308750	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12309408	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12310801	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311153	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12319385	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319439	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319776	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320155	0.84[ASW][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs12321149	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321287	1.00[ASN][1000 genomes]
rs1388775	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1406786	1.00[CHB][hapmap]
rs17094016	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731424	1.00[CHB][hapmap]
rs28538835	0.87[ASN][1000 genomes]
rs28654762	1.00[ASN][1000 genomes]
rs57462004	1.00[ASN][1000 genomes]
rs58851540	1.00[ASN][1000 genomes]
rs59152420	0.87[ASN][1000 genomes]
rs73100825	0.87[ASN][1000 genomes]
rs73100834	0.87[ASN][1000 genomes]
rs73288025	1.00[ASN][1000 genomes]
rs73288036	1.00[ASN][1000 genomes]
rs73288054	1.00[ASN][1000 genomes]
rs73288073	1.00[ASN][1000 genomes]
rs73288075	1.00[ASN][1000 genomes]
rs73288080	1.00[ASN][1000 genomes]
rs73288085	1.00[ASN][1000 genomes]
rs73288089	1.00[ASN][1000 genomes]
rs73288095	1.00[ASN][1000 genomes]
rs73290203	1.00[ASN][1000 genomes]
rs73290206	1.00[ASN][1000 genomes]
rs73290208	1.00[ASN][1000 genomes]
rs73290213	1.00[ASN][1000 genomes]
rs73290217	1.00[ASN][1000 genomes]
rs73290223	1.00[ASN][1000 genomes]
rs73290224	1.00[ASN][1000 genomes]
rs73290225	1.00[ASN][1000 genomes]
rs73290228	1.00[ASN][1000 genomes]
rs73290230	1.00[ASN][1000 genomes]
rs7956766	1.00[CHB][hapmap]
rs7969724	1.00[CHB][hapmap]
rs963095	0.87[ASN][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12303163	NQO1	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44402800-44414600	Weak transcription	HSMMtube	muscle
4	chr12:44403600-44415600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44404000-44422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44404200-44414600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44404200-44422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44404400-44416400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44407200-44413000	Weak transcription	Pancreas	Pancrea
10	chr12:44409400-44410200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:44409600-44410000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:44409600-44411200	Enhancers	Fetal Brain Male	brain
13	chr12:44409800-44410000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr12:44409800-44410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:44409800-44410200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:44409800-44410400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:44409800-44412000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:44409800-44412000	Enhancers	Fetal Brain Female	brain
19	chr12:44409800-44412200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:44409800-44414600	Weak transcription	GM12878-XiMat	blood

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