Variant report

Variant	rs2975418
Chromosome Location	chr8:19489763-19489764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2975416	0.92[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2975417	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2975419	0.89[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs7011083	0.82[CEU][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs873936	0.89[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19481400-19489800	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:19483200-19492600	Weak transcription	Right Ventricle	heart
4	chr8:19483200-19495600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:19483200-19495600	Weak transcription	Right Atrium	heart
6	chr8:19483400-19495200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:19484800-19491000	Weak transcription	Fetal Lung	lung
8	chr8:19484800-19494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:19485400-19489800	Weak transcription	NHDF-Ad	bronchial
10	chr8:19485400-19499200	Weak transcription	Placenta	Placenta
11	chr8:19485400-19500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:19486000-19489800	Weak transcription	Left Ventricle	heart
13	chr8:19486000-19491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:19486000-19492600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:19486200-19490400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:19486400-19490400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr8:19486600-19491200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:19487000-19490400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr8:19488200-19491000	Enhancers	Primary T cells from cord blood	blood
20	chr8:19488200-19491600	Enhancers	A549	lung
21	chr8:19488400-19490600	Weak transcription	GM12878-XiMat	blood
22	chr8:19488400-19494800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:19488600-19495200	Weak transcription	Thymus	Thymus
24	chr8:19488800-19489800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:19488800-19490400	Enhancers	Primary B cells from cord blood	blood
26	chr8:19488800-19490400	Enhancers	Fetal Brain Female	brain
27	chr8:19488800-19490800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:19488800-19501200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:19489000-19497800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:19489400-19490600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:19489400-19494600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:19489400-19495400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:19489600-19490800	Enhancers	Hela-S3	cervix
34	chr8:19489600-19495000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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