Variant report

Variant	rs7451221
Chromosome Location	chr6:164404933-164404934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10484512	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10484513	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10484515	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10945939	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10945940	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10945941	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10945942	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10945944	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10945945	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12191111	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545107	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16895846	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1756	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34021940	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34091550	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34413611	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34561573	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34727935	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs34994154	0.88[ASN][1000 genomes]
rs35668088	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4499903	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709030	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709031	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709799	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4709800	0.97[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4709802	0.90[ASN][1000 genomes]
rs4709803	0.87[ASN][1000 genomes]
rs4709804	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473823	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs491901	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs551475	0.88[EUR][1000 genomes]
rs616299	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs617616	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62435513	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62435541	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs634032	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs656371	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs680187	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs717822	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751193	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9356176	0.90[ASN][1000 genomes]
rs9364711	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830858	chr6:164296054-164455743	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv5582	chr6:164390353-164405727	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7451221	MAP3K4	cis	cerebellum	SCAN
rs7451221	CNO	trans	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164393800-164413800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:164399000-164405400	Weak transcription	Pancreas	Pancrea
3	chr6:164404200-164405000	Active TSS	Brain Anterior Caudate	brain
4	chr6:164404200-164405000	Active TSS	Brain Substantia Nigra	brain
5	chr6:164404400-164405000	Active TSS	Brain Cingulate Gyrus	brain
6	chr6:164404400-164405000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:164404400-164405000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:164404400-164405200	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr6:164404400-164405200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:164404400-164405200	Flanking Active TSS	NH-A	brain
11	chr6:164404400-164405600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:164404600-164405000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:164404600-164405000	Active TSS	Brain Hippocampus Middle	brain
14	chr6:164404600-164405200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr6:164404600-164405200	Active TSS	Fetal Brain Female	brain
16	chr6:164404600-164405400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:164404600-164405400	Enhancers	Fetal Heart	heart
18	chr6:164404600-164405800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:164404600-164405800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:164404800-164405000	Flanking Active TSS	Fetal Brain Male	brain
21	chr6:164404800-164405200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:164404800-164405200	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr6:164404800-164406400	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:164404800-164406400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:164404800-164406600	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:164404800-164406800	Weak transcription	Ovary	ovary
27	chr6:164404800-164407000	Weak transcription	Left Ventricle	heart
28	chr6:164404800-164407000	Weak transcription	Right Atrium	heart

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