Variant report

Variant	rs8112359
Chromosome Location	chr19:21647076-21647077
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	chr19:21645973-21647151	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr19:21646089-21647254	SK-N-SH	brain:	n/a	n/a
3	REST	chr19:21645923-21647216	H1-neurons	neurons:	n/a	chr19:21646763-21646772 chr19:21646253-21646261 chr19:21646798-21646811

Variant related genes	Relation type
ENSG00000268119	TF binding region

Extended variants
information (count: 156 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs1012040	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1021722	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10404462	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10406824	0.84[AMR][1000 genomes]
rs10411757	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10412139	0.86[AMR][1000 genomes]
rs10412656	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10414373	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10420166	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10423403	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11085455	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12150996	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12151067	0.83[ASN][1000 genomes]
rs12151068	0.83[ASN][1000 genomes]
rs12151222	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12971724	0.83[ASN][1000 genomes]
rs12975330	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12976011	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12984238	0.83[ASN][1000 genomes]
rs1500400	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1500401	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1520071	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1520072	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1520073	0.84[AMR][1000 genomes]
rs1566474	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1566476	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1566477	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1607664	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16997924	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17618778	0.83[ASN][1000 genomes]
rs1879235	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1963056	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1984771	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2056319	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2062564	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2090707	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2133816	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2133820	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2133821	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2173723	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2173724	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2246914	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2262897	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2359162	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2454919	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2562399	0.84[AMR][1000 genomes]
rs2562419	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2562441	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2562448	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2562451	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2562452	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2562453	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2562454	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2562455	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2562457	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2562458	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2562459	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2562472	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2562473	0.86[AMR][1000 genomes]
rs2650757	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2650759	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650760	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650778	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650779	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2650780	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650781	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650782	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650783	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650785	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650786	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650787	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2650788	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2650791	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650794	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650799	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650806	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650807	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650808	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650827	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650829	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650830	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2650834	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650835	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2681365	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2681366	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2681368	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2681371	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2681372	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2681375	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2681380	0.86[AMR][1000 genomes]
rs2681382	0.84[AMR][1000 genomes]
rs2681383	0.84[AMR][1000 genomes]
rs2681384	0.86[AMR][1000 genomes]
rs2681390	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28839521	0.83[ASN][1000 genomes]
rs2914647	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2968081	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34006898	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34560125	0.83[ASN][1000 genomes]
rs34978316	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35088652	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35148123	0.83[ASN][1000 genomes]
rs35230828	0.86[AMR][1000 genomes]
rs35245030	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35366148	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35506714	0.93[AMR][1000 genomes]
rs35991360	0.84[AMR][1000 genomes]
rs4332859	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56152627	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56764276	0.86[AMR][1000 genomes]
rs57841525	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58818104	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59654184	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62108277	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62108280	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62108331	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62108332	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62108335	0.89[AMR][1000 genomes]
rs62111469	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62111470	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62111472	0.91[ASN][1000 genomes]
rs62111476	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62111480	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511247	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6511261	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67723811	0.83[ASN][1000 genomes]
rs7254872	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7257584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7258211	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7258523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259178	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74167858	0.89[AMR][1000 genomes]
rs74167860	0.86[AMR][1000 genomes]
rs8100193	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8100318	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8101077	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8101442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8102252	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8102655	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8102699	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8102854	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8103151	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8105629	0.80[ASN][1000 genomes]
rs8106433	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8107042	0.81[ASN][1000 genomes]
rs8107940	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8111788	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8113259	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv961284	chr19:21636687-21659271	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8112359	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs8112359	ZNF429	cis	Whole Blood	GTEx
rs8112359	ZNF738	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21645200-21647200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:21645400-21647200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:21645400-21647200	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr19:21646000-21647200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:21646000-21647200	Active TSS	Primary T cells from cord blood	blood
6	chr19:21646000-21647200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21646800-21647200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:21646800-21647200	Flanking Active TSS	Dnd41	blood
9	chr19:21647000-21647200	Enhancers	Primary B cells from cord blood	blood
10	chr19:21647000-21647200	Enhancers	Primary hematopoietic stem cells	blood
11	chr19:21647000-21647200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:21647000-21647200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:21647000-21647200	Enhancers	Fetal Intestine Small	intestine
14	chr19:21647000-21647200	Enhancers	Fetal Lung	lung
15	chr19:21647000-21647400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:21647000-21649200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:21647000-21657200	Weak transcription	Right Atrium	heart

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