Variant report

Variant	rs2968084
Chromosome Location	chr19:21615899-21615900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21614539..21617498-chr19:21618431..21621735,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 31 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1012040	0.84[CHD][hapmap]
rs11085441	0.85[CEU][hapmap]
rs11085447	0.84[CEU][hapmap]
rs11085450	0.82[EUR][1000 genomes]
rs11085455	0.83[CHD][hapmap]
rs11667770	0.88[CEU][hapmap]
rs11671265	0.82[EUR][1000 genomes]
rs11671832	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12150996	0.84[AFR][1000 genomes]
rs12151222	0.84[AFR][1000 genomes]
rs12609823	0.81[EUR][1000 genomes]
rs12975081	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs12975981	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12981564	0.89[CEU][hapmap]
rs12981735	0.88[CEU][hapmap]
rs12981869	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12982282	0.89[CEU][hapmap]
rs1533675	0.84[CHD][hapmap]
rs1607664	0.84[CHD][hapmap]
rs17618715	0.82[CHB][hapmap]
rs17618778	1.00[CHB][hapmap]
rs17680671	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1781873	0.89[CEU][hapmap]
rs1827225	0.81[AMR][1000 genomes]
rs2012013	0.89[CEU][hapmap]
rs2088762	0.89[CEU][hapmap]
rs2133819	0.85[EUR][1000 genomes]
rs2133820	0.84[CHD][hapmap]
rs2170024	0.89[CEU][hapmap]
rs2246914	0.84[CHD][hapmap]
rs2650774	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2650781	0.92[CHD][hapmap]
rs2914636	0.82[CHB][hapmap]
rs2914638	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs2914647	0.83[AFR][1000 genomes]
rs2914648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2937158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2937159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35994743	0.81[EUR][1000 genomes]
rs3973190	0.81[EUR][1000 genomes]
rs4315457	0.89[CEU][hapmap]
rs4621113	0.89[CEU][hapmap]
rs501647	0.82[CHB][hapmap]
rs509540	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs56152627	0.84[AFR][1000 genomes]
rs566230	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs62110417	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62110418	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62111469	0.84[AFR][1000 genomes]
rs62111470	0.84[AFR][1000 genomes]
rs6511239	0.96[CEU][hapmap]
rs685844	0.82[CHB][hapmap]
rs7245729	0.82[EUR][1000 genomes]
rs7247060	0.81[EUR][1000 genomes]
rs7247411	0.89[CEU][hapmap]
rs7248601	0.82[CEU][hapmap]
rs7248989	0.80[EUR][1000 genomes]
rs7249412	0.89[CEU][hapmap]
rs7252261	0.89[CEU][hapmap]
rs7253886	0.81[EUR][1000 genomes]
rs7254436	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs7254762	0.88[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs7257857	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs7258211	0.84[AFR][1000 genomes]
rs7259178	0.85[AFR][1000 genomes]
rs7259311	0.89[CEU][hapmap]
rs7508671	0.95[CEU][hapmap]
rs8099940	0.89[CEU][hapmap]
rs8101077	0.80[AFR][1000 genomes]
rs8102655	0.80[AFR][1000 genomes]
rs8103151	0.80[AFR][1000 genomes]
rs8103325	0.89[CEU][hapmap]
rs8103459	0.91[CEU][hapmap]
rs8105629	1.00[CHB][hapmap]
rs8107999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8110967	0.89[CEU][hapmap]
rs8111189	0.82[CHB][hapmap]
rs8113558	1.00[CHB][hapmap]
rs880896	0.84[CHD][hapmap]
rs924487	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs939301	0.84[CHD][hapmap]
rs951162	0.82[EUR][1000 genomes]
rs9973240	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:31)

SNP	Gene	Cis/trans	Tissue	Source
rs2968084	ZNF708	cis	cerebellum	SCAN
rs2968084	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs2968084	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs2968084	ZNF493	cis	multi-tissue	Pritchard
rs2968084	LOC115648	cis	normal skin	skin_eQTL
rs2968084	ZNF493	cis	Heart Left Ventricle	GTEx
rs2968084	ZNF429	cis	parietal	SCAN
rs2968084	ZNF429	cis	cerebellum	SCAN
rs2968084	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs2968084	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2968084	ZNF493	cis	Lymphoblastoid	GTEx
rs2968084	CTD-2561J22.5	cis	lung	GTEx
rs2968084	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs2968084	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs2968084	RP11-678G14.2	cis	Thyroid	GTEx
rs2968084	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs2968084	LOC115648	cis	multi-tissue	Pritchard
rs2968084	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs2968084	LOC115648	cis	uninvolved skin	skin_eQTL
rs2968084	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs2968084	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs2968084	RP11-678G14.3	cis	lung	GTEx
rs2968084	RP11-678G14.2	cis	Whole Blood	GTEx
rs2968084	ZNF493	cis	cerebellum	SCAN
rs2968084	RP11-678G14.2	cis	lung	GTEx
rs2968084	ZNF429	cis	multi-tissue	Pritchard
rs2968084	ZNF208	cis	parietal	SCAN
rs2968084	CTD-2561J22.5	cis	Thyroid	GTEx
rs2968084	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs2968084	RP11-678G14.2	cis	Nerve Tibial	GTEx
rs2968084	ZNF738	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21607600-21630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21613400-21618600	ZNF genes & repeats	Liver	Liver
3	chr19:21614800-21616200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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