Variant report

Variant	rs554438139
Chromosome Location	chr8:19588566-19588567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	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
8	esv3478971	chr8:19587201-19591233	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv3478972	chr8:19587201-19591233	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv19364	chr8:19587584-19590311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv610760	chr8:19588133-19590218	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:19576400-19591800	Weak transcription	Primary B cells from cord blood	blood
3	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:19578200-19591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:19583600-19592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:19584000-19589000	Weak transcription	Fetal Lung	lung
7	chr8:19584400-19589400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr8:19585400-19591200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:19586600-19588600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:19586800-19589000	Enhancers	Left Ventricle	heart
11	chr8:19587200-19589000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:19587200-19589000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:19587200-19589200	Enhancers	Right Ventricle	heart
14	chr8:19587400-19597000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:19587400-19602800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:19587600-19591600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:19587600-19600800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:19587800-19588800	Enhancers	Fetal Muscle Leg	muscle
19	chr8:19587800-19589600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:19588000-19588600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:19588000-19588600	Strong transcription	A549	lung
22	chr8:19588000-19588800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr8:19588000-19589200	Weak transcription	Hela-S3	cervix
24	chr8:19588000-19589600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:19588000-19589600	Enhancers	Placenta	Placenta
26	chr8:19588000-19590000	Weak transcription	Primary T cells from cord blood	blood
27	chr8:19588200-19588600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:19588200-19588600	Enhancers	Pancreas	Pancrea
29	chr8:19588200-19589000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:19588200-19589000	Enhancers	Fetal Muscle Trunk	muscle
31	chr8:19588200-19589600	Weak transcription	Fetal Brain Female	brain
32	chr8:19588200-19590000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:19588400-19588600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:19588400-19589000	Enhancers	Esophagus	oesophagus
35	chr8:19588400-19589000	Enhancers	Right Atrium	heart
36	chr8:19588400-19590200	Enhancers	Fetal Heart	heart
37	chr8:19588400-19591000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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