Variant report

Variant	rs6511228
Chromosome Location	chr19:21536462-21536463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10405716	0.91[ASN][1000 genomes]
rs1055753	0.88[ASN][1000 genomes]
rs10854043	0.95[ASN][1000 genomes]
rs11085443	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11085447	0.89[ASN][1000 genomes]
rs1142653	0.91[ASN][1000 genomes]
rs11667770	0.88[ASN][1000 genomes]
rs11668691	0.87[ASN][1000 genomes]
rs11669588	0.91[ASN][1000 genomes]
rs11673304	0.86[ASN][1000 genomes]
rs11673406	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12459702	0.87[ASN][1000 genomes]
rs12461384	0.90[ASN][1000 genomes]
rs12462022	0.88[ASN][1000 genomes]
rs12610331	0.83[ASN][1000 genomes]
rs12971736	0.88[ASN][1000 genomes]
rs12972339	0.88[ASN][1000 genomes]
rs12972580	0.91[ASN][1000 genomes]
rs12974735	0.91[ASN][1000 genomes]
rs12975081	0.91[ASN][1000 genomes]
rs12975464	0.91[ASN][1000 genomes]
rs12978116	0.90[ASN][1000 genomes]
rs12979646	0.88[ASN][1000 genomes]
rs12980097	0.90[ASN][1000 genomes]
rs12981564	0.91[ASN][1000 genomes]
rs12981735	0.91[ASN][1000 genomes]
rs12981775	0.91[ASN][1000 genomes]
rs12981777	0.91[ASN][1000 genomes]
rs12982162	0.91[ASN][1000 genomes]
rs12982282	0.91[ASN][1000 genomes]
rs12982346	0.80[ASN][1000 genomes]
rs12983426	0.91[ASN][1000 genomes]
rs12983787	0.88[ASN][1000 genomes]
rs12984300	0.83[ASN][1000 genomes]
rs12984871	0.91[ASN][1000 genomes]
rs1781863	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1813234	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1932088	0.89[ASN][1000 genomes]
rs1963531	0.91[ASN][1000 genomes]
rs1963532	0.92[ASN][1000 genomes]
rs1976384	0.91[ASN][1000 genomes]
rs2012013	0.92[ASN][1000 genomes]
rs2012038	0.92[ASN][1000 genomes]
rs2061917	0.92[ASN][1000 genomes]
rs2061918	0.91[ASN][1000 genomes]
rs2061919	0.91[ASN][1000 genomes]
rs2086317	0.92[ASN][1000 genomes]
rs2086318	0.94[ASN][1000 genomes]
rs2086320	0.92[ASN][1000 genomes]
rs2088762	0.91[ASN][1000 genomes]
rs2102072	0.91[ASN][1000 genomes]
rs2127404	0.91[ASN][1000 genomes]
rs2127405	0.91[ASN][1000 genomes]
rs2127406	0.91[ASN][1000 genomes]
rs2127407	0.91[ASN][1000 genomes]
rs2127408	0.91[ASN][1000 genomes]
rs2133819	0.81[ASN][1000 genomes]
rs2170024	0.92[ASN][1000 genomes]
rs2170025	0.92[ASN][1000 genomes]
rs2173728	0.84[ASN][1000 genomes]
rs2219840	0.91[ASN][1000 genomes]
rs2262896	0.80[ASN][1000 genomes]
rs2358982	0.93[ASN][1000 genomes]
rs2358983	0.93[ASN][1000 genomes]
rs2358984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2358985	0.94[ASN][1000 genomes]
rs2358986	0.91[ASN][1000 genomes]
rs2358988	0.91[ASN][1000 genomes]
rs2358989	0.91[ASN][1000 genomes]
rs2358990	0.91[ASN][1000 genomes]
rs2358991	0.92[ASN][1000 genomes]
rs2358992	0.92[ASN][1000 genomes]
rs2434997	0.92[ASN][1000 genomes]
rs2650774	0.81[ASN][1000 genomes]
rs2650775	0.84[AMR][1000 genomes]
rs2650810	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2650845	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2650847	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279813	0.86[EUR][1000 genomes]
rs2884601	0.94[ASN][1000 genomes]
rs2914629	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2914636	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2914637	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2914638	0.92[ASN][1000 genomes]
rs2928208	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2928210	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2937161	0.84[AMR][1000 genomes]
rs2968025	0.80[ASN][1000 genomes]
rs35580411	0.88[ASN][1000 genomes]
rs35773446	0.88[ASN][1000 genomes]
rs4315457	0.90[ASN][1000 genomes]
rs4341872	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4438422	0.91[ASN][1000 genomes]
rs4461198	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4566304	0.92[ASN][1000 genomes]
rs549882	0.81[EUR][1000 genomes]
rs57055133	0.83[EUR][1000 genomes]
rs59617671	0.83[EUR][1000 genomes]
rs608002	0.81[EUR][1000 genomes]
rs62109224	0.82[EUR][1000 genomes]
rs6511222	0.83[ASN][1000 genomes]
rs6511229	0.89[ASN][1000 genomes]
rs6511231	0.91[ASN][1000 genomes]
rs6511232	0.91[ASN][1000 genomes]
rs6511233	0.91[ASN][1000 genomes]
rs6511237	0.86[ASN][1000 genomes]
rs6511238	0.91[ASN][1000 genomes]
rs6511239	0.88[ASN][1000 genomes]
rs6511242	0.88[ASN][1000 genomes]
rs6511245	0.87[ASN][1000 genomes]
rs6511246	0.87[ASN][1000 genomes]
rs7245848	0.84[EUR][1000 genomes]
rs7245920	0.91[ASN][1000 genomes]
rs7247411	0.89[ASN][1000 genomes]
rs7248601	0.91[ASN][1000 genomes]
rs7248700	0.84[EUR][1000 genomes]
rs7249412	0.88[ASN][1000 genomes]
rs7252261	0.93[ASN][1000 genomes]
rs7252873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253178	0.89[ASN][1000 genomes]
rs7254059	0.88[ASN][1000 genomes]
rs7256361	0.90[ASN][1000 genomes]
rs7257580	0.89[ASN][1000 genomes]
rs7257857	0.89[ASN][1000 genomes]
rs7258086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7258335	0.91[ASN][1000 genomes]
rs7259311	0.87[ASN][1000 genomes]
rs7260369	0.90[ASN][1000 genomes]
rs73025767	0.82[EUR][1000 genomes]
rs7508030	0.89[ASN][1000 genomes]
rs7508092	0.89[ASN][1000 genomes]
rs7508104	0.84[ASN][1000 genomes]
rs7508671	0.90[ASN][1000 genomes]
rs8099863	0.83[EUR][1000 genomes]
rs8099940	0.91[ASN][1000 genomes]
rs8102328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8102342	0.86[ASN][1000 genomes]
rs8103325	0.91[ASN][1000 genomes]
rs8103417	0.83[EUR][1000 genomes]
rs8103459	0.91[ASN][1000 genomes]
rs8103908	0.91[ASN][1000 genomes]
rs8104017	0.92[ASN][1000 genomes]
rs8106936	0.88[ASN][1000 genomes]
rs8110230	0.84[AMR][1000 genomes]
rs8110690	0.91[ASN][1000 genomes]
rs8110842	0.87[ASN][1000 genomes]
rs8110967	0.94[ASN][1000 genomes]
rs8111189	0.83[EUR][1000 genomes]
rs8111549	0.80[ASN][1000 genomes]
rs8112059	0.89[ASN][1000 genomes]
rs8112583	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	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
7	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6511228	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs6511228	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs6511228	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs6511228	CTD-2561J22.5	cis	Thyroid	GTEx
rs6511228	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs6511228	ZNF429	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21534800-21536800	Enhancers	Dnd41	blood
2	chr19:21535800-21537000	Weak transcription	Brain Substantia Nigra	brain
3	chr19:21536200-21541400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:21536200-21541400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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