Variant report

Variant	rs28654443
Chromosome Location	chr8:19517699-19517700
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19517559..19519398-chr8:19521074..19523001,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10087317	1.00[AMR][1000 genomes]
rs10087663	1.00[AMR][1000 genomes]
rs10088450	1.00[AMR][1000 genomes]
rs10094142	1.00[AMR][1000 genomes]
rs10096490	1.00[AMR][1000 genomes]
rs10096638	1.00[AMR][1000 genomes]
rs10101907	1.00[AMR][1000 genomes]
rs10104615	1.00[AMR][1000 genomes]
rs10104968	1.00[AMR][1000 genomes]
rs10106180	1.00[AMR][1000 genomes]
rs10107181	1.00[AMR][1000 genomes]
rs10109345	1.00[AMR][1000 genomes]
rs17128545	1.00[AMR][1000 genomes]
rs17128641	1.00[AMR][1000 genomes]
rs17128662	1.00[AMR][1000 genomes]
rs17128691	1.00[AMR][1000 genomes]
rs17128714	1.00[AMR][1000 genomes]
rs17128743	1.00[AMR][1000 genomes]
rs17128745	1.00[AMR][1000 genomes]
rs17128792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28415838	1.00[AMR][1000 genomes]
rs28427117	1.00[AMR][1000 genomes]
rs28457744	1.00[AMR][1000 genomes]
rs28578312	1.00[AMR][1000 genomes]
rs28661517	1.00[AMR][1000 genomes]
rs28713671	1.00[AMR][1000 genomes]
rs28738093	1.00[AMR][1000 genomes]
rs7005354	1.00[AMR][1000 genomes]
rs73602829	1.00[EUR][1000 genomes]
rs7817946	1.00[AMR][1000 genomes]
rs7821215	1.00[AMR][1000 genomes]
rs7821389	1.00[AMR][1000 genomes]
rs7821612	1.00[AMR][1000 genomes]
rs7824941	1.00[AMR][1000 genomes]
rs7839912	1.00[AMR][1000 genomes]
rs7840172	1.00[AMR][1000 genomes]
rs7843893	1.00[AMR][1000 genomes]
rs9325858	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19500400-19519600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:19503400-19518200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:19503400-19521000	Weak transcription	Pancreas	Pancrea
5	chr8:19508400-19519800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:19509200-19519800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr8:19510600-19520600	Weak transcription	Fetal Brain Male	brain
8	chr8:19511200-19518600	Weak transcription	Right Atrium	heart
9	chr8:19511200-19521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:19511600-19519800	Weak transcription	Fetal Stomach	stomach
11	chr8:19512000-19520400	Weak transcription	NH-A	brain
12	chr8:19512200-19520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:19512200-19522400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:19512400-19518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:19512400-19518800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:19512400-19521000	Weak transcription	Aorta	Aorta
17	chr8:19513600-19518000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:19514200-19518800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:19514400-19518200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:19514400-19519400	Weak transcription	Primary T cells from cord blood	blood
21	chr8:19514400-19519800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:19514600-19518800	Weak transcription	Lung	lung
23	chr8:19515200-19520000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:19515200-19523000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:19515400-19519600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:19516600-19518800	Enhancers	Hela-S3	cervix
27	chr8:19516600-19525000	Enhancers	Placenta	Placenta
28	chr8:19516800-19519000	Genic enhancers	A549	lung
29	chr8:19517200-19518400	Enhancers	NHDF-Ad	bronchial
30	chr8:19517200-19519800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:19517400-19518400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:19517400-19520200	Weak transcription	Esophagus	oesophagus
33	chr8:19517600-19518800	Weak transcription	Left Ventricle	heart
34	chr8:19517600-19518800	Weak transcription	Right Ventricle	heart
35	chr8:19517600-19520200	Weak transcription	Osteobl	bone

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