Variant report

Variant	rs826323
Chromosome Location	chr19:37504953-37504954
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10403679	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10420554	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10424584	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10426135	0.82[ASN][1000 genomes]
rs1047333	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11084871	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11667146	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11670216	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673192	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11673344	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs12151313	0.97[EUR][1000 genomes]
rs1234251	0.85[EUR][1000 genomes]
rs13345491	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1423047	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1610560	0.89[ASN][1000 genomes]
rs1644638	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1644640	0.83[EUR][1000 genomes]
rs1644642	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1644643	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1644645	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1644711	1.00[JPT][hapmap]
rs1657510	1.00[CHB][hapmap]
rs1667331	0.81[EUR][1000 genomes]
rs1667340	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1667343	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16971873	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16971886	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16972020	1.00[CHB][hapmap]
rs16972024	1.00[CHB][hapmap]
rs16972028	1.00[CHB][hapmap]
rs16972030	1.00[CHB][hapmap]
rs17707446	0.88[CEU][hapmap]
rs1879497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1962889	0.84[EUR][1000 genomes]
rs2011475	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2547055	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2562587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745768	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3745770	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45626541	0.83[EUR][1000 genomes]
rs472226	0.84[EUR][1000 genomes]
rs474017	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs475026	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs484001	1.00[JPT][hapmap]
rs496872	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs505717	1.00[JPT][hapmap]
rs513406	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs517110	1.00[JPT][hapmap]
rs519551	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs524802	0.81[EUR][1000 genomes]
rs528504	0.82[EUR][1000 genomes]
rs529468	0.81[EUR][1000 genomes]
rs540451	1.00[JPT][hapmap]
rs544543	1.00[JPT][hapmap]
rs547483	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs550017	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs551717	1.00[JPT][hapmap]
rs55792845	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921822	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080874	0.81[EUR][1000 genomes]
rs56208574	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56330606	0.86[EUR][1000 genomes]
rs565721	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs568654	1.00[JPT][hapmap]
rs569371	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs573294	1.00[JPT][hapmap]
rs703530	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703535	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703537	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247589	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252230	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254616	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7256001	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7256213	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256746	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7256876	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257126	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7257135	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7259513	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7260386	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs734381	0.82[EUR][1000 genomes]
rs73622783	0.83[EUR][1000 genomes]
rs8104919	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106386	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107192	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110696	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826262	1.00[JPT][hapmap]
rs826290	1.00[JPT][hapmap]
rs826296	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs826303	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs826304	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs826307	0.82[EUR][1000 genomes]
rs826314	0.83[EUR][1000 genomes]
rs826322	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676450	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
17	esv2762037	chr19:37503899-37510784	Weak transcription ZNF genes & repeats Active TSS Strong transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs826323	AC012309.5	cis	Esophagus Muscularis	GTEx
rs826323	AC012309.5	cis	Thyroid	GTEx
rs826323	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs826323	AC012309.5	cis	Heart Left Ventricle	GTEx
rs826323	ZNF585B	cis	Artery Tibial	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37498000-37508400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:37498200-37506800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
3	chr19:37498200-37507800	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr19:37498200-37508000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:37498400-37505200	ZNF genes & repeats	Lung	lung
6	chr19:37498400-37506600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:37498400-37507800	ZNF genes & repeats	Fetal Stomach	stomach
8	chr19:37498400-37507800	ZNF genes & repeats	Pancreas	Pancrea
9	chr19:37498400-37508000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:37498400-37508400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:37498600-37506000	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:37498600-37506800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:37498600-37509200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:37498800-37507800	ZNF genes & repeats	Spleen	Spleen
15	chr19:37499200-37507800	ZNF genes & repeats	Ovary	ovary
16	chr19:37499200-37508800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:37500600-37506400	Weak transcription	Right Ventricle	heart
18	chr19:37502400-37506000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:37502600-37506400	Weak transcription	Fetal Heart	heart
20	chr19:37503800-37508000	ZNF genes & repeats	Fetal Lung	lung
21	chr19:37503800-37508400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr19:37504200-37505800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:37504200-37508200	ZNF genes & repeats	Liver	Liver
24	chr19:37504200-37508200	Weak transcription	Brain Angular Gyrus	brain
25	chr19:37504400-37505800	ZNF genes & repeats	Left Ventricle	heart
26	chr19:37504800-37505800	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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