Variant report

Variant	rs62111476
Chromosome Location	chr19:21640626-21640627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs1021722	0.86[ASN][1000 genomes]
rs10404462	0.86[ASN][1000 genomes]
rs10411757	0.82[ASN][1000 genomes]
rs10412656	0.88[ASN][1000 genomes]
rs10414373	0.86[ASN][1000 genomes]
rs10420166	0.86[ASN][1000 genomes]
rs10423403	0.86[ASN][1000 genomes]
rs11085455	0.86[ASN][1000 genomes]
rs12150996	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151067	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151068	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151222	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12971724	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12975330	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12975981	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12976011	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12981869	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12984238	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1500400	0.86[ASN][1000 genomes]
rs1500401	0.86[ASN][1000 genomes]
rs1520071	0.86[ASN][1000 genomes]
rs1520072	0.86[ASN][1000 genomes]
rs1566474	0.94[ASN][1000 genomes]
rs1566476	0.94[ASN][1000 genomes]
rs1566477	0.94[ASN][1000 genomes]
rs1607664	0.81[ASN][1000 genomes]
rs16997924	0.94[ASN][1000 genomes]
rs17618778	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1879235	0.81[ASN][1000 genomes]
rs1963056	0.86[ASN][1000 genomes]
rs1984771	0.86[ASN][1000 genomes]
rs2056319	0.86[ASN][1000 genomes]
rs2062564	0.86[ASN][1000 genomes]
rs2090707	0.83[ASN][1000 genomes]
rs2133816	0.86[ASN][1000 genomes]
rs2133820	0.86[ASN][1000 genomes]
rs2133821	0.86[ASN][1000 genomes]
rs2173723	0.86[ASN][1000 genomes]
rs2173724	0.86[ASN][1000 genomes]
rs2246914	0.86[ASN][1000 genomes]
rs2262897	0.94[ASN][1000 genomes]
rs2359162	0.86[ASN][1000 genomes]
rs2454919	0.88[ASN][1000 genomes]
rs2562419	0.86[ASN][1000 genomes]
rs2562441	0.86[ASN][1000 genomes]
rs2562448	0.86[ASN][1000 genomes]
rs2562451	0.82[ASN][1000 genomes]
rs2562452	0.82[ASN][1000 genomes]
rs2562453	0.88[ASN][1000 genomes]
rs2562454	0.88[ASN][1000 genomes]
rs2562455	0.88[ASN][1000 genomes]
rs2562457	0.94[ASN][1000 genomes]
rs2562458	0.94[ASN][1000 genomes]
rs2562459	0.94[ASN][1000 genomes]
rs2562472	0.86[ASN][1000 genomes]
rs2650757	0.83[ASN][1000 genomes]
rs2650759	0.86[ASN][1000 genomes]
rs2650760	0.86[ASN][1000 genomes]
rs2650778	0.94[ASN][1000 genomes]
rs2650779	0.88[ASN][1000 genomes]
rs2650780	0.94[ASN][1000 genomes]
rs2650781	0.94[ASN][1000 genomes]
rs2650782	0.94[ASN][1000 genomes]
rs2650783	0.94[ASN][1000 genomes]
rs2650785	0.94[ASN][1000 genomes]
rs2650786	0.94[ASN][1000 genomes]
rs2650787	0.88[ASN][1000 genomes]
rs2650788	0.82[ASN][1000 genomes]
rs2650791	0.86[ASN][1000 genomes]
rs2650794	0.86[ASN][1000 genomes]
rs2650799	0.86[ASN][1000 genomes]
rs2650806	0.86[ASN][1000 genomes]
rs2650807	0.86[ASN][1000 genomes]
rs2650808	0.94[ASN][1000 genomes]
rs2650827	0.86[ASN][1000 genomes]
rs2650829	0.86[ASN][1000 genomes]
rs2650830	0.83[ASN][1000 genomes]
rs2650834	0.86[ASN][1000 genomes]
rs2650835	0.86[ASN][1000 genomes]
rs2681366	0.86[ASN][1000 genomes]
rs2681368	0.86[ASN][1000 genomes]
rs2681371	0.86[ASN][1000 genomes]
rs2681372	0.86[ASN][1000 genomes]
rs2681375	0.86[ASN][1000 genomes]
rs2681390	0.86[ASN][1000 genomes]
rs28839521	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2914647	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2968081	0.94[ASN][1000 genomes]
rs34006898	0.86[ASN][1000 genomes]
rs34560125	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34875588	0.84[EUR][1000 genomes]
rs34978316	0.81[ASN][1000 genomes]
rs35088652	0.86[ASN][1000 genomes]
rs35148123	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35245030	0.94[ASN][1000 genomes]
rs35366148	0.81[ASN][1000 genomes]
rs35506714	0.80[AMR][1000 genomes]
rs35578515	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35860067	0.84[EUR][1000 genomes]
rs4332859	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56152627	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57841525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58818104	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59654184	0.86[ASN][1000 genomes]
rs62108277	0.88[ASN][1000 genomes]
rs62108331	0.86[ASN][1000 genomes]
rs62108332	0.86[ASN][1000 genomes]
rs62110379	0.86[EUR][1000 genomes]
rs62111469	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111470	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111472	0.94[ASN][1000 genomes]
rs62111480	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6511247	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511261	0.86[ASN][1000 genomes]
rs67723811	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7246684	0.86[EUR][1000 genomes]
rs7254872	0.86[ASN][1000 genomes]
rs7257584	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258211	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258523	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259178	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8100193	0.86[ASN][1000 genomes]
rs8100318	0.86[ASN][1000 genomes]
rs8101077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101442	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8102252	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8102655	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102699	0.86[ASN][1000 genomes]
rs8102854	0.86[ASN][1000 genomes]
rs8103151	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105404	0.86[EUR][1000 genomes]
rs8105629	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8106433	0.86[ASN][1000 genomes]
rs8107042	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8107940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111788	0.86[ASN][1000 genomes]
rs8112359	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8113259	0.86[ASN][1000 genomes]
rs8113558	0.88[EUR][1000 genomes];0.81[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62111476	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs62111476	ZNF738	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21629800-21641400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr19:21630000-21642000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:21630200-21643800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:21630400-21643800	ZNF genes & repeats	Dnd41	blood
5	chr19:21633800-21641400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:21633800-21641400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:21634600-21641600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:21635600-21642000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:21635600-21642000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:21635800-21641200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr19:21636200-21641000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr19:21636800-21641400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr19:21636800-21645800	Weak transcription	Fetal Kidney	kidney
14	chr19:21636800-21646200	Weak transcription	Fetal Heart	heart
15	chr19:21637200-21641000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr19:21638200-21642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:21638800-21642600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:21639200-21641400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:21639400-21645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:21639600-21642000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:21639600-21646000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:21639800-21641600	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr19:21640400-21640800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:21640400-21641000	ZNF genes & repeats	Liver	Liver
25	chr19:21640400-21641200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr19:21640400-21641200	ZNF genes & repeats	Fetal Lung	lung
27	chr19:21640600-21640800	ZNF genes & repeats	Right Atrium	heart
28	chr19:21640600-21640800	Enhancers	K562	blood
29	chr19:21640600-21641000	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr19:21640600-21641200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr19:21640600-21641200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr19:21640600-21644200	ZNF genes & repeats	Ovary	ovary

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