Variant report

Variant	rs7459983
Chromosome Location	chr8:11807221-11807222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10087494	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10089712	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10092340	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10103485	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10112743	0.80[EUR][1000 genomes]
rs10112958	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10113042	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10113062	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10113145	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10216773	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10903345	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11250175	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11250176	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11250177	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11250178	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11250179	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11250182	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786149	0.80[EUR][1000 genomes]
rs11996277	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12681142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12719914	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12719915	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13252853	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13252854	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13261205	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13264994	0.89[CEU][hapmap]
rs13265816	0.80[AMR][1000 genomes]
rs13268030	1.00[CEU][hapmap]
rs13269417	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13275143	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13276433	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13279577	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13281077	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13281315	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28510449	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28838382	0.80[EUR][1000 genomes]
rs34012738	0.86[AMR][1000 genomes]
rs34117651	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34266352	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34419349	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34465618	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34535807	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34583868	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34657250	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35251245	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35391955	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35647515	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35657308	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35778860	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35905106	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35995176	0.81[EUR][1000 genomes]
rs36100659	0.82[AMR][1000 genomes]
rs4240678	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4367597	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4840597	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4840599	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841639	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4841641	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4841642	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4841644	0.80[AMR][1000 genomes]
rs4841645	0.89[CEU][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4841646	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55948474	0.80[EUR][1000 genomes]
rs56001613	0.81[EUR][1000 genomes]
rs56102998	0.84[EUR][1000 genomes]
rs57356272	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57597334	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58049869	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58202536	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58325983	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58556886	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58869268	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59423463	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62493601	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62493617	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6601633	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601634	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6985792	0.82[EUR][1000 genomes]
rs6998690	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6999030	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7006538	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011924	0.88[CEU][hapmap]
rs7012446	0.88[CEU][hapmap]
rs7014580	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7459545	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461273	0.82[EUR][1000 genomes]
rs7812563	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7815179	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7815186	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7815572	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7815595	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7816182	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7820338	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7821336	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7824267	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7824564	0.88[CEU][hapmap]
rs7825529	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7830734	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7833079	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7833685	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7842810	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9329251	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9692662	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9692668	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9693925	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9694940	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9694967	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9886639	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
13	nsv1029694	chr8:11727357-11858466	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv2758148	chr8:11741558-12567301	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
15	nsv427815	chr8:11741558-12567301	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
16	nsv428195	chr8:11741558-12567301	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
17	esv2759593	chr8:11741558-12601971	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
18	nsv1029934	chr8:11747133-11858466	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1016332	chr8:11751798-11861797	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1016544	chr8:11754663-11849955	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv539482	chr8:11754663-11849955	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv890370	chr8:11755513-11900847	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv491752	chr8:11758865-12467543	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
24	nsv890371	chr8:11771089-11896831	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1026344	chr8:11786255-11897177	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv1019536	chr8:11788237-11828263	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	nsv1019489	chr8:11802328-11858466	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv917210	chr8:11805761-12404066	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7459983	TDH	cis	parietal	SCAN
rs7459983	NEIL2	cis	Nerve Tibial	GTEx
rs7459983	MFHAS1	cis	cerebellum	SCAN
rs7459983	TDH	cis	cerebellum	SCAN
rs7459983	CTSB	cis	cerebellum	SCAN
rs7459983	FLJ10661	cis	parietal	SCAN
rs7459983	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs7459983	FLJ10661	cis	cerebellum	SCAN
rs7459983	DEFB134	cis	cerebellum	SCAN
rs7459983	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11806600-11809000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:11807000-11807400	Bivalent Enhancer	K562	blood
3	chr8:11807200-11807600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:11807200-11807600	Enhancers	Fetal Heart	heart
5	chr8:11807200-11807600	Enhancers	Right Atrium	heart
6	chr8:11807200-11807800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr8:11807200-11808800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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