Variant report

Variant	rs10104473
Chromosome Location	chr8:19586205-19586206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12375275	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs12549679	0.94[ASN][1000 genomes]
rs13249203	0.92[ASN][1000 genomes]
rs13264159	0.94[ASN][1000 genomes]
rs13279183	0.94[ASN][1000 genomes]
rs17091266	0.88[ASN][1000 genomes]
rs28660470	0.88[ASN][1000 genomes]
rs28717065	0.86[ASN][1000 genomes]
rs34347433	0.94[ASN][1000 genomes]
rs34909571	0.94[ASN][1000 genomes]
rs35174554	0.90[ASN][1000 genomes]
rs35192805	0.93[ASN][1000 genomes]
rs35403757	0.92[ASN][1000 genomes]
rs6586862	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs67841905	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999967	0.92[ASN][1000 genomes]
rs6999968	0.94[ASN][1000 genomes]
rs7017170	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71510659	0.95[ASN][1000 genomes]
rs7814601	0.94[ASN][1000 genomes]
rs7832074	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs7832946	0.87[ASN][1000 genomes]
rs7834607	0.87[ASN][1000 genomes]
rs7845430	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs9693642	0.93[ASN][1000 genomes]
rs9694733	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19575400-19587200	Weak transcription	Brain Angular Gyrus	brain
2	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:19576400-19591800	Weak transcription	Primary B cells from cord blood	blood
4	chr8:19577400-19586800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:19577600-19587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:19578200-19591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:19578400-19586800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:19578400-19587200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:19578800-19588000	Weak transcription	Placenta	Placenta
11	chr8:19579000-19587200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:19580200-19588200	Weak transcription	Pancreas	Pancrea
13	chr8:19583000-19586400	Enhancers	HUVEC	blood vessel
14	chr8:19583600-19592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:19584000-19587200	Enhancers	Fetal Heart	heart
16	chr8:19584000-19589000	Weak transcription	Fetal Lung	lung
17	chr8:19584400-19588000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:19584400-19589400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr8:19584800-19587200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:19585400-19588000	Strong transcription	Hela-S3	cervix
21	chr8:19585400-19588400	Weak transcription	Esophagus	oesophagus
22	chr8:19585400-19591200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:19585600-19586800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:19585600-19586800	Weak transcription	Right Atrium	heart
25	chr8:19585600-19586800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:19585600-19587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:19585600-19587200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:19585600-19587200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:19585800-19586600	Weak transcription	Primary T cells from cord blood	blood
30	chr8:19585800-19586800	Weak transcription	Left Ventricle	heart
31	chr8:19585800-19588200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:19586000-19587200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:19586000-19587400	Enhancers	A549	lung
34	chr8:19586200-19586600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:19586200-19587200	Weak transcription	Right Ventricle	heart
36	chr8:19586200-19587800	Weak transcription	Brain Anterior Caudate	brain

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