Variant report

Variant	rs11993795
Chromosome Location	chr8:19599284-19599285
allele	C/T
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:7)

rs_ID	r²[population]
rs11986293	1.00[AMR][1000 genomes]
rs11989937	0.83[AMR][1000 genomes]
rs28570547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28594358	0.83[AMR][1000 genomes]
rs57669168	1.00[AMR][1000 genomes]
rs61477227	1.00[AMR][1000 genomes]
rs7832092	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19587400-19602800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:19587600-19600800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:19588600-19613400	Weak transcription	Pancreas	Pancrea
4	chr8:19591600-19599800	Weak transcription	Right Ventricle	heart
5	chr8:19591800-19602800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:19592200-19603000	Weak transcription	Hela-S3	cervix
7	chr8:19594400-19599400	Weak transcription	Fetal Heart	heart
8	chr8:19594800-19600000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:19597400-19599400	Weak transcription	Right Atrium	heart
10	chr8:19597400-19600000	Weak transcription	Fetal Lung	lung
11	chr8:19597400-19600200	Weak transcription	Fetal Brain Female	brain
12	chr8:19597400-19600600	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:19597800-19600200	Enhancers	Placenta	Placenta
14	chr8:19597800-19603000	Weak transcription	Primary B cells from cord blood	blood
15	chr8:19597800-19603400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:19598000-19599800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:19598000-19602400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:19598000-19602400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:19598000-19603200	Weak transcription	Left Ventricle	heart
20	chr8:19598600-19600400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:19598600-19603000	Weak transcription	A549	lung
22	chr8:19598800-19600200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:19598800-19601000	Weak transcription	Primary T cells from cord blood	blood
24	chr8:19599000-19600200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:19599000-19600400	Enhancers	Fetal Muscle Leg	muscle

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