Variant report

Variant	rs13282951
Chromosome Location	chr8:19398267-19398268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10088454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095053	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096224	0.84[CHB][hapmap]
rs10099716	0.85[ASN][1000 genomes]
rs10100557	0.84[CHB][hapmap]
rs10100589	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10101192	0.87[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10104448	1.00[CHB][hapmap]
rs10105363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10106622	1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10109274	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110641	0.82[CHB][hapmap]
rs10111704	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10112270	0.85[ASN][1000 genomes]
rs10282938	0.84[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10282948	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10283186	0.84[ASN][1000 genomes]
rs10503649	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10503651	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11204046	0.82[CHD][hapmap]
rs11204047	0.82[CHD][hapmap]
rs11204050	0.82[CHD][hapmap]
rs11988176	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11995671	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11996150	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11996428	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11997873	1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12334362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13248137	0.86[MEX][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13261887	0.84[GIH][hapmap]
rs13263246	1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13265751	0.91[CHD][hapmap]
rs13280511	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13281882	1.00[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap]
rs17128556	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17128604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128707	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28460428	0.86[ASN][1000 genomes]
rs28488909	0.88[ASN][1000 genomes]
rs28490401	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28581643	0.86[ASN][1000 genomes]
rs28611430	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28614008	0.86[ASN][1000 genomes]
rs28640069	0.83[ASN][1000 genomes]
rs34524638	0.84[AMR][1000 genomes]
rs35086264	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35989102	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4332151	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4413788	0.87[CHD][hapmap]
rs4461917	1.00[CHB][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes]
rs4472532	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4472533	0.84[GIH][hapmap]
rs4481614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4483172	0.82[CHD][hapmap]
rs4507779	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4554481	0.81[CHD][hapmap]
rs4565470	0.84[CHB][hapmap]
rs4921651	0.87[CHD][hapmap]
rs4922047	0.87[CHD][hapmap]
rs4922049	0.82[CHD][hapmap]
rs55676623	0.85[ASN][1000 genomes]
rs56303837	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56672726	0.85[ASN][1000 genomes]
rs57087900	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59703425	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59810980	0.83[ASN][1000 genomes]
rs61309921	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66758432	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67210305	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67389428	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs68068544	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6980558	0.92[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6992213	1.00[TSI][hapmap];0.89[YRI][hapmap]
rs6993026	1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap]
rs6995282	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs6995903	1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6996593	1.00[CHB][hapmap]
rs6996750	1.00[CHB][hapmap]
rs6998334	0.87[CHD][hapmap]
rs6999542	0.87[CHD][hapmap]
rs7002643	0.87[ASW][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7004016	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7017776	0.87[CHD][hapmap]
rs7814548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818691	0.88[JPT][hapmap]
rs9692698	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1024012	chr8:19377703-19409791	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19389000-19408000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:19390400-19408200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:19394600-19398400	Strong transcription	Primary B cells from cord blood	blood
5	chr8:19395600-19399800	Enhancers	Hela-S3	cervix
6	chr8:19395600-19402200	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:19396200-19407800	Weak transcription	Primary T cells from cord blood	blood
8	chr8:19396400-19408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:19396600-19405000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:19397200-19398600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:19397600-19401000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:19397600-19408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:19397800-19398400	Enhancers	Brain Anterior Caudate	brain
14	chr8:19398000-19398400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:19398000-19398600	Enhancers	NHEK	skin
16	chr8:19398000-19398800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:19398200-19398400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:19398200-19398400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:19398200-19398400	ZNF genes & repeats	Aorta	Aorta
20	chr8:19398200-19398400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:19398200-19398400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:19398200-19398400	Enhancers	Right Atrium	heart
23	chr8:19398200-19398400	Flanking Active TSS	A549	lung
24	chr8:19398200-19398400	Enhancers	HMEC	breast
25	chr8:19398200-19398600	Enhancers	Right Ventricle	heart
26	chr8:19398200-19398800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:19398200-19398800	Enhancers	Left Ventricle	heart
28	chr8:19398200-19398800	Enhancers	Ovary	ovary

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