Variant report

Variant	rs703530
Chromosome Location	chr19:37500918-37500919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10403679	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10420554	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10424584	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10426135	0.82[ASN][1000 genomes]
rs1047333	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11084871	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11667146	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11670216	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673192	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11673344	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12151313	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1234251	0.85[EUR][1000 genomes]
rs13345491	0.83[AMR][1000 genomes];0.91[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];0.95[YRI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1644640	0.84[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];0.96[YRI][hapmap];0.80[AMR][1000 genomes]
rs1657510	1.00[CHB][hapmap]
rs1667331	0.81[EUR][1000 genomes]
rs1667340	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1667343	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16971873	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16971886	0.87[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]
rs1726719	0.80[AMR][1000 genomes]
rs17707446	0.87[CEU][hapmap]
rs1879497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1962889	0.83[EUR][1000 genomes]
rs2011475	0.85[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	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745768	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[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];0.87[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	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs475026	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs484001	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs496872	0.88[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs505717	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs510214	0.96[YRI][hapmap]
rs510757	0.88[YRI][hapmap]
rs513406	0.88[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs517110	1.00[JPT][hapmap]
rs519551	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs519606	0.96[YRI][hapmap]
rs524802	0.82[EUR][1000 genomes]
rs528504	0.82[EUR][1000 genomes]
rs529468	0.82[EUR][1000 genomes]
rs540451	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs544543	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs547483	0.91[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs550017	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs551717	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs55792845	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921822	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080874	0.80[EUR][1000 genomes]
rs56208574	0.96[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];0.96[YRI][hapmap]
rs569371	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs573294	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs703535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703537	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247589	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252230	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254616	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7256001	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7256213	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256746	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7256876	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257126	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7257135	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs7259513	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7260386	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs734381	0.82[EUR][1000 genomes]
rs73622783	0.82[EUR][1000 genomes]
rs8104919	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106386	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107192	0.96[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];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110696	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826262	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs826290	1.00[JPT][hapmap];0.88[YRI][hapmap]
rs826296	0.88[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs826303	0.88[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs826304	0.91[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs826307	0.82[EUR][1000 genomes]
rs826314	0.83[EUR][1000 genomes]
rs826322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826323	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676450	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs703530	AC012309.5	cis	Heart Left Ventricle	GTEx
rs703530	AC012309.5	cis	Esophagus Muscularis	GTEx
rs703530	AC012309.5	cis	Thyroid	GTEx
rs703530	ZNF585B	cis	Artery Tibial	GTEx
rs703530	AC012309.5	cis	Artery Tibial	GTEx
rs703530	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 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	chr19:37498200-37501000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:37498200-37502800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:37498200-37506800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
5	chr19:37498200-37507800	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr19:37498200-37508000	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:37498400-37501200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:37498400-37503000	ZNF genes & repeats	Esophagus	oesophagus
9	chr19:37498400-37505200	ZNF genes & repeats	Lung	lung
10	chr19:37498400-37506600	ZNF genes & repeats	Brain Germinal Matrix	brain
11	chr19:37498400-37507800	ZNF genes & repeats	Fetal Stomach	stomach
12	chr19:37498400-37507800	ZNF genes & repeats	Pancreas	Pancrea
13	chr19:37498400-37508000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:37498400-37508400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:37498600-37506000	ZNF genes & repeats	Fetal Brain Female	brain
16	chr19:37498600-37506800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:37498600-37509200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:37498800-37503600	ZNF genes & repeats	Gastric	stomach
19	chr19:37498800-37507800	ZNF genes & repeats	Spleen	Spleen
20	chr19:37499200-37501600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr19:37499200-37507800	ZNF genes & repeats	Ovary	ovary
22	chr19:37499200-37508800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:37499400-37501800	Weak transcription	Fetal Heart	heart
24	chr19:37500000-37501200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr19:37500200-37502600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr19:37500400-37501200	Weak transcription	Fetal Lung	lung
27	chr19:37500600-37502800	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr19:37500600-37503600	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr19:37500600-37506400	Weak transcription	Right Ventricle	heart
30	chr19:37500800-37501200	Weak transcription	Left Ventricle	heart

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