Variant report

Variant	rs1994788
Chromosome Location	chr8:19578268-19578269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10098471	0.84[ASN][1000 genomes]
rs10112417	0.92[ASN][1000 genomes]
rs1021436	0.92[ASN][1000 genomes]
rs10503664	0.87[ASW][hapmap]
rs12056388	0.83[ASN][1000 genomes]
rs13253689	0.83[ASN][1000 genomes]
rs1492644	0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs1492645	0.81[ASN][1000 genomes]
rs1552782	0.85[ASN][1000 genomes]
rs1845041	0.82[ASN][1000 genomes]
rs2006476	0.94[ASN][1000 genomes]
rs3735956	0.83[ASN][1000 genomes]
rs4922089	0.92[ASN][1000 genomes]
rs4922090	0.92[ASN][1000 genomes]
rs6586860	0.92[ASN][1000 genomes]
rs7815576	0.92[ASN][1000 genomes]
rs7833352	0.82[ASN][1000 genomes]
rs7836255	0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1994788	ATP6V1B2	cis	cerebellum	SCAN
rs1994788	SLC25A37	cis	parietal	SCAN
rs1994788	SLC7A2	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19573200-19578400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:19573200-19579000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr8:19573200-19579000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:19573800-19578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:19573800-19580000	Weak transcription	Pancreas	Pancrea
6	chr8:19574400-19578600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:19574800-19578400	Enhancers	Right Ventricle	heart
8	chr8:19574800-19578800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:19574800-19578800	Enhancers	Placenta	Placenta
10	chr8:19575000-19578400	Enhancers	Left Ventricle	heart
11	chr8:19575000-19578400	Enhancers	Osteobl	bone
12	chr8:19575400-19587200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:19576000-19578800	Enhancers	A549	lung
15	chr8:19576200-19578400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:19576200-19578800	Enhancers	Right Atrium	heart
17	chr8:19576400-19579000	Weak transcription	Thymus	Thymus
18	chr8:19576400-19580000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:19576400-19591800	Weak transcription	Primary B cells from cord blood	blood
20	chr8:19576600-19578400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:19576800-19578600	Weak transcription	Fetal Brain Female	brain
22	chr8:19576800-19579000	Enhancers	Fetal Heart	heart
23	chr8:19577200-19578400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:19577200-19578400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:19577400-19579200	Enhancers	Hela-S3	cervix
26	chr8:19577400-19586800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:19577600-19578400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:19577600-19578600	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:19577600-19578600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:19577600-19578800	Enhancers	Fetal Muscle Leg	muscle
31	chr8:19577600-19585000	Weak transcription	Primary T cells from cord blood	blood
32	chr8:19577600-19587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:19577800-19578600	Enhancers	Psoas Muscle	Psoas
34	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:19578000-19578400	Enhancers	Brain Substantia Nigra	brain
36	chr8:19578000-19578400	Enhancers	Lung	lung
37	chr8:19578000-19578600	Enhancers	Ovary	ovary
38	chr8:19578000-19579000	Enhancers	Fetal Brain Male	brain
39	chr8:19578000-19584400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:19578200-19578600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:19578200-19578600	Enhancers	Fetal Muscle Trunk	muscle
42	chr8:19578200-19591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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