Variant report

Variant	rs2013213
Chromosome Location	chr8:19578969-19578970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19391042..19393600-chr8:19578654..19580566,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1388943	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17091113	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1021225	chr8:19554860-19586580	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	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
9	esv3489366	chr8:19577908-19579183	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3489367	chr8:19577928-19579143	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2013213	NAT1	cis	cerebellum	SCAN
rs2013213	VPS37A	cis	parietal	SCAN
rs2013213	SLC39A14	cis	cerebellum	SCAN
rs2013213	SLC25A37	cis	parietal	SCAN
rs2013213	ATP6V1B2	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19573200-19579000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr8:19573200-19579000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:19573800-19580000	Weak transcription	Pancreas	Pancrea
4	chr8:19575400-19587200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:19576400-19579000	Weak transcription	Thymus	Thymus
7	chr8:19576400-19580000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:19576400-19591800	Weak transcription	Primary B cells from cord blood	blood
9	chr8:19576800-19579000	Enhancers	Fetal Heart	heart
10	chr8:19577400-19579200	Enhancers	Hela-S3	cervix
11	chr8:19577400-19586800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:19577600-19585000	Weak transcription	Primary T cells from cord blood	blood
13	chr8:19577600-19587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:19578000-19579000	Enhancers	Fetal Brain Male	brain
16	chr8:19578000-19584400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:19578200-19591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:19578400-19580000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:19578400-19582200	Weak transcription	Left Ventricle	heart
20	chr8:19578400-19584600	Weak transcription	Right Ventricle	heart
21	chr8:19578400-19586800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:19578400-19587200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:19578600-19580000	Weak transcription	Ovary	ovary
24	chr8:19578600-19584400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:19578600-19585200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:19578600-19585400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:19578800-19582600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:19578800-19582600	Weak transcription	A549	lung
29	chr8:19578800-19584400	Weak transcription	Right Atrium	heart
30	chr8:19578800-19584600	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:19578800-19584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:19578800-19588000	Weak transcription	Placenta	Placenta

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