Variant report

Variant	rs320881
Chromosome Location	chr19:37737850-37737851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37737817-37737866	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:37736976-37738701	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37731883..37734726-chr19:37736593..37738662,2	K562	blood:

Variant related genes	Relation type
ENSG00000226686	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs185368	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs185369	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs2385180	0.83[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap]
rs2431992	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs256733	0.85[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap]
rs256735	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs320876	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs320887	0.81[CEU][hapmap];0.93[TSI][hapmap]
rs502546	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs7254009	0.83[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap]
rs862234	0.88[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak 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	13 gene(s)	inside rSNPs	diseases
11	nsv961287	chr19:37708789-37742224	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
12	nsv9717	chr19:37721760-37796698	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs320881	PVR	cis	parietal	SCAN
rs320881	DMPK	cis	parietal	SCAN
rs320881	AC012309.5	cis	Heart Left Ventricle	GTEx
rs320881	AC012309.5	cis	Thyroid	GTEx
rs320881	HIPK4	cis	parietal	SCAN
rs320881	ZNF781	cis	Thyroid	GTEx
rs320881	ARHGEF1	cis	cerebellum	SCAN
rs320881	PAK4	cis	cerebellum	SCAN
rs320881	AC012309.5	cis	Esophagus Mucosa	GTEx
rs320881	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs320881	AC012309.5	cis	Esophagus Muscularis	GTEx
rs320881	CCDC97	cis	cerebellum	SCAN
rs320881	AC012309.5	cis	Skin Sun Exposed Lower leg	GTEx
rs320881	SIPA1L3	cis	cerebellum	SCAN
rs320881	POU2F2	cis	parietal	SCAN
rs320881	ZNF585B	cis	Artery Tibial	GTEx
rs320881	AC012309.5	cis	Muscle Skeletal	GTEx
rs320881	PLEKHG2	cis	cerebellum	SCAN
rs320881	HKR1	cis	Whole Blood	GTEx
rs320881	AC012309.5	cis	Artery Tibial	GTEx
rs320881	ZNF781	cis	brain	BrainEAC

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
2	chr19:37711200-37738200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
3	chr19:37715200-37740400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
4	chr19:37715400-37738400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37715800-37738000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:37720800-37738600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:37720800-37740200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:37720800-37740400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:37724800-37738600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:37725000-37743600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:37726600-37738000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr19:37734800-37739400	Weak transcription	HSMM	muscle
13	chr19:37734800-37741400	Weak transcription	Fetal Heart	heart
14	chr19:37736000-37742800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:37736600-37741200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr19:37736800-37742000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:37737000-37739600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:37737400-37741600	Weak transcription	Brain Angular Gyrus	brain
19	chr19:37737800-37739600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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