Variant report

Variant	rs10266126
Chromosome Location	chr7:69375390-69375391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10252876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981973	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6947395	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1017390	chr7:69339404-69406232	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv538920	chr7:69339404-69406232	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10266126	AUTS2	cis	cerebellum	SCAN
rs10266126	VKORC1L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69351200-69375400	Weak transcription	Fetal Stomach	stomach
2	chr7:69355400-69376600	Weak transcription	Ovary	ovary
3	chr7:69368800-69377000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:69368800-69377600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:69371600-69376000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:69372000-69376000	Weak transcription	Brain Germinal Matrix	brain
7	chr7:69372000-69376200	Weak transcription	Thymus	Thymus
8	chr7:69372000-69377000	Weak transcription	Right Ventricle	heart
9	chr7:69372000-69377400	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:69372200-69376000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:69372200-69376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:69372200-69376400	Weak transcription	Primary B cells from cord blood	blood
13	chr7:69372800-69376000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:69373200-69376000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:69373600-69376200	Weak transcription	Pancreas	Pancrea
16	chr7:69373600-69377200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:69373800-69376400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:69374000-69376000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:69374000-69376200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:69375000-69375400	Enhancers	Psoas Muscle	Psoas
21	chr7:69375000-69377200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:69375000-69377200	ZNF genes & repeats	Dnd41	blood

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