Variant report

Variant	rs7258211
Chromosome Location	chr19:21623795-21623796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21619589..21622487-chr19:21622888..21624863,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:145)

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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151067	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151068	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12971724	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12975330	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12975981	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12976011	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12981869	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12984238	0.97[AMR][1000 genomes];0.96[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	0.95[AMR][1000 genomes];0.95[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]
rs2650774	0.82[AFR][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	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2914647	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2914648	0.84[AFR][1000 genomes]
rs2914649	0.82[AFR][1000 genomes]
rs2937158	0.84[AFR][1000 genomes]
rs2937159	0.84[AFR][1000 genomes]
rs2937161	0.80[EUR][1000 genomes]
rs2968081	0.94[ASN][1000 genomes]
rs2968084	0.84[AFR][1000 genomes]
rs34006898	0.86[ASN][1000 genomes]
rs34560125	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34875588	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34978316	0.81[ASN][1000 genomes]
rs35088652	0.86[ASN][1000 genomes]
rs35148123	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35245030	0.94[ASN][1000 genomes]
rs35366148	0.81[ASN][1000 genomes]
rs35578515	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35860067	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4332859	0.94[ASN][1000 genomes]
rs56152627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57841525	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58818104	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	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62111469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111472	0.94[ASN][1000 genomes]
rs62111476	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111480	0.88[ASN][1000 genomes]
rs6511247	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511261	0.86[ASN][1000 genomes]
rs67723811	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7246684	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7254872	0.86[ASN][1000 genomes]
rs7257584	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7258523	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7259178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101442	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8102252	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8102655	0.96[AFR][1000 genomes];0.90[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];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105404	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8105629	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8106433	0.86[ASN][1000 genomes]
rs8107042	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8107940	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111788	0.86[ASN][1000 genomes]
rs8112359	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8113259	0.86[ASN][1000 genomes]
rs8113558	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7258211	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs7258211	ZNF493	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 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	chr19:21618200-21626800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:21621200-21625000	Weak transcription	Dnd41	blood
4	chr19:21621600-21624200	Enhancers	Fetal Lung	lung
5	chr19:21621600-21624200	Enhancers	Pancreas	Pancrea
6	chr19:21621800-21624400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr19:21621800-21625200	Active TSS	Ovary	ovary
8	chr19:21622000-21624200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:21622200-21624000	Enhancers	Stomach Mucosa	stomach
10	chr19:21622400-21632600	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:21623200-21623800	Weak transcription	Fetal Kidney	kidney
12	chr19:21623200-21630400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:21623400-21626400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:21623600-21625600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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