Variant report

Variant	rs7906048
Chromosome Location	chr10:19921009-19921010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10508590	0.82[TSI][hapmap]
rs10508591	0.92[ASN][1000 genomes]
rs10764125	0.83[EUR][1000 genomes]
rs10827686	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10827694	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11010791	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812122	0.92[ASN][1000 genomes]
rs11812625	0.94[ASN][1000 genomes]
rs11813014	0.93[ASN][1000 genomes]
rs11813720	0.93[ASN][1000 genomes]
rs11814692	0.93[ASN][1000 genomes]
rs11815338	0.93[ASN][1000 genomes]
rs11818123	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11818556	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12266190	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357862	0.83[EUR][1000 genomes]
rs1326968	0.83[EUR][1000 genomes]
rs1326969	0.83[EUR][1000 genomes]
rs1326973	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1326977	0.93[ASN][1000 genomes]
rs1326979	0.94[ASN][1000 genomes]
rs1326980	0.92[ASN][1000 genomes]
rs1326982	0.92[ASN][1000 genomes]
rs1326989	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409742	0.83[EUR][1000 genomes]
rs1409743	0.88[ASN][1000 genomes]
rs1541025	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16919229	0.92[ASN][1000 genomes]
rs16919231	0.94[ASN][1000 genomes]
rs16919233	0.94[ASN][1000 genomes]
rs16919244	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1807136	0.83[EUR][1000 genomes]
rs1819290	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1926821	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1998914	0.83[EUR][1000 genomes]
rs2358472	0.83[EUR][1000 genomes]
rs2358473	0.83[EUR][1000 genomes]
rs34243926	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34655750	0.93[ASN][1000 genomes]
rs4348797	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57968785	0.93[ASN][1000 genomes]
rs7070398	0.93[ASN][1000 genomes]
rs7074130	0.93[ASN][1000 genomes]
rs7077648	0.93[ASN][1000 genomes]
rs7080580	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7087570	0.94[ASN][1000 genomes]
rs7087709	0.94[ASN][1000 genomes]
rs7090760	0.94[ASN][1000 genomes]
rs7091330	0.94[ASN][1000 genomes]
rs7091938	0.94[ASN][1000 genomes]
rs7094760	0.94[ASN][1000 genomes]
rs719861	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73595867	0.96[ASN][1000 genomes]
rs73595885	0.92[ASN][1000 genomes]
rs73595886	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73595888	0.94[ASN][1000 genomes]
rs74119716	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7894895	0.88[AFR][1000 genomes]
rs7905660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7905796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7906180	0.88[AFR][1000 genomes]
rs7906192	0.88[AFR][1000 genomes]
rs7906876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7918865	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7919538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7922646	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923533	0.83[EUR][1000 genomes]
rs9299731	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv466764	chr10:19400845-19979434	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv550128	chr10:19400845-19979434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759737	chr10:19694144-20024994	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2758211	chr10:19714637-20024994	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1049295	chr10:19740296-20509036	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1042877	chr10:19749314-20067572	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2757373	chr10:19776910-20004996	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv34306	chr10:19777069-20117944	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3518965	chr10:19786251-20061305	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3518966	chr10:19786310-20061256	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv894931	chr10:19796958-19987644	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv825266	chr10:19807019-20037182	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv831804	chr10:19859400-20035593	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv894933	chr10:19865757-20036080	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7906048	EXT1	trans	brain	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19881600-19926600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19900000-19923000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19918200-19927200	Weak transcription	Right Atrium	heart
4	chr10:19918400-19926600	Weak transcription	Ovary	ovary
5	chr10:19918600-19926600	Weak transcription	Fetal Intestine Large	intestine
6	chr10:19918800-19926000	Weak transcription	HSMMtube	muscle
7	chr10:19918800-19926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:19919000-19926200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:19919200-19926600	Weak transcription	NHLF	lung
10	chr10:19919400-19922000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:19919400-19922200	Weak transcription	Fetal Lung	lung
12	chr10:19921000-19921400	Enhancers	Adipose Nuclei	Adipose
13	chr10:19921000-19921800	Enhancers	Aorta	Aorta

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