Variant report

Variant	rs28578312
Chromosome Location	chr8:19423255-19423256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19421605..19423814-chr8:19425046..19426616,2	K562	blood:
2	chr8:19421921..19423971-chr8:19424845..19426471,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10087317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10087663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10088450	1.00[AMR][1000 genomes]
rs10094142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096485	1.00[AMR][1000 genomes]
rs10096490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10097851	1.00[AMR][1000 genomes]
rs10101907	1.00[AMR][1000 genomes]
rs10104615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104968	1.00[AMR][1000 genomes]
rs10106180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106270	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10107181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10109345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128520	1.00[AMR][1000 genomes]
rs17128532	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128535	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128662	1.00[AFR][1000 genomes];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]
rs17128803	1.00[AMR][1000 genomes]
rs17128811	1.00[AMR][1000 genomes]
rs28415838	1.00[AMR][1000 genomes]
rs28427117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28457744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491635	1.00[AMR][1000 genomes]
rs28607676	1.00[AMR][1000 genomes]
rs28654443	1.00[AMR][1000 genomes]
rs28661517	1.00[AMR][1000 genomes]
rs28713671	1.00[AMR][1000 genomes]
rs28738093	1.00[AMR][1000 genomes]
rs28742998	0.81[AFR][1000 genomes];1.00[AMR][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[AFR][1000 genomes];1.00[AMR][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	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
12	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
13	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19401400-19434000	Weak transcription	Hela-S3	cervix
3	chr8:19409000-19437400	Weak transcription	Gastric	stomach
4	chr8:19415400-19424400	Weak transcription	Aorta	Aorta
5	chr8:19418400-19424400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:19419000-19424400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:19419200-19433400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:19419600-19425000	Weak transcription	Primary T cells from cord blood	blood
9	chr8:19419600-19428000	Weak transcription	Right Ventricle	heart
10	chr8:19419600-19433400	Weak transcription	Left Ventricle	heart
11	chr8:19419600-19435600	Weak transcription	Pancreas	Pancrea
12	chr8:19419800-19428800	Weak transcription	Primary B cells from cord blood	blood
13	chr8:19421600-19424400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:19421600-19424600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:19422000-19423400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:19422200-19435600	Weak transcription	Right Atrium	heart
17	chr8:19422400-19424200	Weak transcription	A549	lung
18	chr8:19422600-19442000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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