Variant report

Variant	rs13280511
Chromosome Location	chr8:19398178-19398179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10088454	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10089231	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10095053	0.98[EUR][1000 genomes]
rs10100589	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10101192	0.93[EUR][1000 genomes]
rs10105363	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10106622	0.81[EUR][1000 genomes]
rs10109274	0.98[EUR][1000 genomes]
rs10503649	0.83[EUR][1000 genomes]
rs10503651	0.98[EUR][1000 genomes]
rs11995671	0.81[EUR][1000 genomes]
rs11996150	0.85[EUR][1000 genomes]
rs11996428	0.81[EUR][1000 genomes]
rs11997873	0.81[EUR][1000 genomes]
rs12334362	0.80[YRI][hapmap];0.98[EUR][1000 genomes]
rs13263246	0.81[EUR][1000 genomes]
rs13282951	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17128556	0.80[YRI][hapmap]
rs17128604	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17128609	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17480419	1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs28611430	0.85[EUR][1000 genomes]
rs35086264	0.85[EUR][1000 genomes]
rs35989102	0.81[EUR][1000 genomes]
rs4472532	0.98[EUR][1000 genomes]
rs4481614	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs56303837	0.81[EUR][1000 genomes]
rs57087900	0.90[EUR][1000 genomes]
rs59703425	0.98[EUR][1000 genomes]
rs61309921	0.88[EUR][1000 genomes]
rs66758432	0.83[EUR][1000 genomes]
rs67210305	0.83[EUR][1000 genomes]
rs67389428	0.88[EUR][1000 genomes]
rs68068544	0.93[EUR][1000 genomes]
rs6992213	0.85[AMR][1000 genomes]
rs6995903	0.81[EUR][1000 genomes]
rs7002643	0.87[EUR][1000 genomes]
rs7814548	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19386400-19398200	Weak transcription	Ovary	ovary
3	chr8:19389000-19408000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:19390400-19408200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:19394600-19398400	Strong transcription	Primary B cells from cord blood	blood
6	chr8:19394800-19398200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:19395000-19398200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:19395600-19399800	Enhancers	Hela-S3	cervix
9	chr8:19395600-19402200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:19396200-19407800	Weak transcription	Primary T cells from cord blood	blood
11	chr8:19396400-19398200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:19396400-19398200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:19396400-19408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:19396600-19405000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:19397200-19398600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:19397400-19398200	Weak transcription	Left Ventricle	heart
17	chr8:19397400-19398200	Weak transcription	Right Ventricle	heart
18	chr8:19397600-19401000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:19397600-19408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:19397800-19398200	Weak transcription	Right Atrium	heart
21	chr8:19397800-19398200	Enhancers	A549	lung
22	chr8:19397800-19398400	Enhancers	Brain Anterior Caudate	brain
23	chr8:19398000-19398200	Weak transcription	Aorta	Aorta
24	chr8:19398000-19398400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:19398000-19398600	Enhancers	NHEK	skin
26	chr8:19398000-19398800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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