Variant report

Variant	rs826330
Chromosome Location	chr19:37497914-37497915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10402907	0.86[EUR][1000 genomes]
rs10403718	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10403728	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10403975	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10406110	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10408085	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10408359	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10413360	0.84[EUR][1000 genomes]
rs10414520	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10419643	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10420330	0.80[EUR][1000 genomes]
rs10421509	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10853950	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1095490	0.84[EUR][1000 genomes]
rs11084874	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11084875	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11666786	0.86[EUR][1000 genomes]
rs11672848	0.80[EUR][1000 genomes]
rs11879644	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11879645	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11881645	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12980849	0.81[EUR][1000 genomes]
rs12984458	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1402468	0.81[EUR][1000 genomes]
rs1667370	0.81[EUR][1000 genomes]
rs1667371	0.81[EUR][1000 genomes]
rs1667372	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667377	0.85[EUR][1000 genomes]
rs1667378	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1667379	0.85[EUR][1000 genomes]
rs1667380	0.86[EUR][1000 genomes]
rs17206540	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1818748	0.91[EUR][1000 genomes]
rs1829603	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2082009	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2082010	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2090805	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2118208	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2118209	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2263166	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385373	0.86[EUR][1000 genomes]
rs2385374	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385375	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2551049	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2562585	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2562591	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2562607	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2595554	0.83[EUR][1000 genomes]
rs2595555	0.85[EUR][1000 genomes]
rs28528332	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2891754	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2891766	0.92[EUR][1000 genomes]
rs35162188	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35524127	0.91[EUR][1000 genomes]
rs35579954	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35998183	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36096221	0.91[EUR][1000 genomes]
rs3902013	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3929570	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4117556	0.81[EUR][1000 genomes]
rs4239587	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4254428	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4414605	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4805199	0.86[EUR][1000 genomes]
rs4805201	0.81[EUR][1000 genomes]
rs4805202	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4805203	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4805204	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4805205	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4806407	0.87[EUR][1000 genomes]
rs4806408	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4806409	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4806411	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4806412	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56154134	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6510580	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6510585	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6510588	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6510591	0.86[EUR][1000 genomes]
rs6510592	0.86[EUR][1000 genomes]
rs6510593	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs703531	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7245453	0.91[EUR][1000 genomes]
rs7245520	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7245882	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7246022	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7246720	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7246739	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7248132	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7248948	0.91[EUR][1000 genomes]
rs7250507	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7253730	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7254410	0.80[ASN][1000 genomes]
rs7255576	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7255724	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7256380	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7257320	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7257633	0.86[EUR][1000 genomes]
rs7258360	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7258650	0.81[EUR][1000 genomes]
rs7259332	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7259915	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7260488	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7260599	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8099987	0.86[EUR][1000 genomes]
rs8105065	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8105621	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8108429	0.81[EUR][1000 genomes]
rs8108509	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8109501	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8110158	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8110796	0.86[EUR][1000 genomes]
rs8111285	0.86[EUR][1000 genomes]
rs8113822	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826324	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826325	0.87[EUR][1000 genomes]
rs826326	0.86[EUR][1000 genomes]
rs826327	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826328	0.87[EUR][1000 genomes]
rs826329	0.88[EUR][1000 genomes]
rs826331	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv911653	chr19:37482151-37556673	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv961214	chr19:37494699-37506227	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs826330	ZNF585B	cis	Artery Tibial	GTEx
rs826330	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37488200-37498200	Weak transcription	Fetal Heart	heart
2	chr19:37488400-37498000	Weak transcription	Placenta	Placenta
3	chr19:37488600-37498200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:37488600-37498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr19:37488600-37498400	Weak transcription	Brain Germinal Matrix	brain
6	chr19:37488600-37498400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:37489000-37498200	Weak transcription	Brain Angular Gyrus	brain
8	chr19:37489000-37498200	Weak transcription	Brain Substantia Nigra	brain
9	chr19:37489000-37498200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr19:37493800-37498400	Weak transcription	Fetal Muscle Leg	muscle

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