Variant report

Variant	rs6812904
Chromosome Location	chr4:149196991-149196992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10011581	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026226	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11932031	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11945778	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17581311	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2163172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28372032	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3846317	0.85[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3846319	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3857083	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6535596	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6535597	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6832393	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6833414	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9997090	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1031815	chr4:149172485-149282928	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv527076	chr4:149196991-149201619	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6812904	PET112L	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149192400-149209400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:149194200-149198000	Enhancers	Fetal Intestine Small	intestine
3	chr4:149194400-149216400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:149194600-149198000	Enhancers	Fetal Intestine Large	intestine
5	chr4:149195000-149198800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:149195000-149204200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:149195200-149197600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:149195200-149197600	Weak transcription	Brain Substantia Nigra	brain
9	chr4:149195200-149198800	Weak transcription	Lung	lung
10	chr4:149195200-149198800	Weak transcription	Psoas Muscle	Psoas
11	chr4:149195200-149203600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:149195200-149207600	Weak transcription	Brain Angular Gyrus	brain
13	chr4:149195600-149203200	Weak transcription	Right Ventricle	heart
14	chr4:149195600-149203600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:149195600-149204000	Weak transcription	Brain Anterior Caudate	brain
16	chr4:149195800-149203600	Weak transcription	Liver	Liver
17	chr4:149195800-149205000	Weak transcription	Gastric	stomach
18	chr4:149196200-149203800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:149196400-149197200	Weak transcription	Stomach Mucosa	stomach
20	chr4:149196800-149198800	Weak transcription	Left Ventricle	heart
21	chr4:149196800-149202800	Weak transcription	Fetal Heart	heart
22	chr4:149196800-149209600	Weak transcription	Pancreas	Pancrea

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