Variant report

Variant	rs12533847
Chromosome Location	chr7:136611936-136611937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10243944	1.00[ASN][1000 genomes]
rs10447876	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10447877	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447878	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10447879	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10488598	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10954567	0.94[AFR][1000 genomes]
rs11971334	0.89[AFR][1000 genomes]
rs11976272	0.85[ASN][1000 genomes]
rs11981061	0.80[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982108	0.80[CEU][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532092	0.81[CEU][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532094	0.80[CEU][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535371	0.82[ASN][1000 genomes]
rs12536267	0.81[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536293	0.86[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536315	0.81[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536341	0.81[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537142	0.82[ASN][1000 genomes]
rs12539659	0.81[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539738	0.94[AFR][1000 genomes]
rs12540313	0.94[AFR][1000 genomes]
rs12707333	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12707334	0.85[ASN][1000 genomes]
rs13224113	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13235468	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13246516	0.88[ASN][1000 genomes]
rs1364404	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1364405	0.80[CEU][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364406	0.80[CEU][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1424387	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1424543	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1469179	1.00[ASN][1000 genomes]
rs17411478	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17411561	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17412549	0.80[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17412764	0.87[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17412792	0.81[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495548	0.85[ASN][1000 genomes]
rs17495783	0.85[ASN][1000 genomes]
rs17496259	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17496363	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17496543	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17496575	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17496844	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496997	0.81[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497143	0.81[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497261	0.80[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497363	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278071	0.82[ASN][1000 genomes]
rs2350781	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34777519	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35458626	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35850868	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4629799	0.83[CEU][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55816133	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55828513	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55895689	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485228	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62485229	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62485234	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62485236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485238	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485239	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485242	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485243	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62485244	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485245	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485246	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485247	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485248	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485252	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62485254	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485257	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62485258	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6947206	1.00[ASN][1000 genomes]
rs73158708	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73158738	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7457321	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7789847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790583	0.81[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799307	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7800170	1.00[ASN][1000 genomes]
rs7810473	0.85[ASN][1000 genomes]
rs7811061	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136605200-136612200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:136607000-136612200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:136607800-136638000	Weak transcription	NHLF	lung
4	chr7:136609000-136612000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:136609600-136613600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:136610400-136612000	Enhancers	HUVEC	blood vessel
7	chr7:136610800-136612200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:136610800-136623400	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:136611000-136616400	Weak transcription	Right Atrium	heart
10	chr7:136611000-136623200	Weak transcription	Left Ventricle	heart
11	chr7:136611600-136612200	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:136611800-136614600	Enhancers	Fetal Heart	heart

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