Variant report

Variant	rs17526697
Chromosome Location	chr10:92500519-92500520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10047335	1.00[ASN][1000 genomes]
rs11186233	1.00[ASN][1000 genomes]
rs12243422	1.00[ASN][1000 genomes]
rs12248380	1.00[ASN][1000 genomes]
rs1547850	1.00[ASN][1000 genomes]
rs17451198	1.00[ASN][1000 genomes]
rs1807875	1.00[ASN][1000 genomes]
rs1892112	1.00[ASN][1000 genomes]
rs1892527	1.00[ASN][1000 genomes]
rs1892528	1.00[ASN][1000 genomes]
rs1892530	1.00[ASN][1000 genomes]
rs1892531	1.00[ASN][1000 genomes]
rs1892532	1.00[ASN][1000 genomes]
rs1936597	1.00[ASN][1000 genomes]
rs1972397	1.00[ASN][1000 genomes]
rs2186015	1.00[ASN][1000 genomes]
rs2420185	1.00[ASN][1000 genomes]
rs2901084	1.00[ASN][1000 genomes]
rs4390260	1.00[ASN][1000 genomes]
rs4532943	1.00[ASN][1000 genomes]
rs4933599	1.00[ASN][1000 genomes]
rs4933603	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55983726	1.00[ASN][1000 genomes]
rs56190281	1.00[ASN][1000 genomes]
rs61859324	1.00[ASN][1000 genomes]
rs66513005	1.00[ASN][1000 genomes]
rs7073521	1.00[ASN][1000 genomes]
rs7089665	1.00[ASN][1000 genomes]
rs7090090	1.00[ASN][1000 genomes]
rs7090119	1.00[ASN][1000 genomes]
rs72807144	1.00[ASN][1000 genomes]
rs72807150	1.00[ASN][1000 genomes]
rs72807156	1.00[ASN][1000 genomes]
rs72807159	1.00[ASN][1000 genomes]
rs72807160	1.00[ASN][1000 genomes]
rs72807163	1.00[ASN][1000 genomes]
rs72807168	1.00[ASN][1000 genomes]
rs7900478	1.00[ASN][1000 genomes]
rs7917811	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422237	chr10:91940542-92547558	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1052753	chr10:92081093-92565617	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv467432	chr10:92082250-92559908	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv551879	chr10:92082250-92559908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv467433	chr10:92083015-92598458	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv551880	chr10:92083015-92598458	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv516743	chr10:92083015-92605119	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1049931	chr10:92083932-92605364	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv948363	chr10:92084520-92614402	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv551882	chr10:92090785-92598823	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1047255	chr10:92095431-92548184	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv540744	chr10:92095431-92548184	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1054504	chr10:92099335-92590723	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv533133	chr10:92363552-92594891	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1036058	chr10:92471568-92605364	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17526697	HHEX	cis	parietal	SCAN
rs17526697	PAPSS2	cis	cerebellum	SCAN
rs17526697	LGI1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92492800-92501200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:92492800-92503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:92494600-92501600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:92494600-92510800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:92494800-92501800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:92495000-92501000	Weak transcription	Aorta	Aorta
7	chr10:92495000-92503000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:92495000-92508600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:92495400-92501200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:92499800-92501800	Weak transcription	Fetal Brain Female	brain
11	chr10:92499800-92503000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:92500000-92501800	Enhancers	NHEK	skin
13	chr10:92500200-92501400	Weak transcription	HSMM	muscle
14	chr10:92500200-92502800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:92500400-92501200	Weak transcription	Fetal Stomach	stomach
16	chr10:92500400-92501400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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