Variant report

Variant	rs2555586
Chromosome Location	chr8:67400347-67400348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67399013..67400552-chr8:67401503..67403129,2	MCF-7	breast:
2	chr8:67383309..67385950-chr8:67398891..67400480,2	MCF-7	breast:
3	chr8:67400231..67403065-chr8:67433723..67435649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169085	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17405528	1.00[CHD][hapmap]
rs2433594	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs2433595	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2433596	1.00[ASW][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2465983	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs2465988	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2465989	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2555573	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs2555576	1.00[CHD][hapmap]
rs2555577	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2555590	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2718989	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs2718992	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2718993	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2718998	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs7014306	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2555586	ADHFE1	cis	parietal	SCAN
rs2555586	ADHFE1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
2	chr8:67387400-67406400	Weak transcription	Liver	Liver
3	chr8:67395000-67403800	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:67396000-67406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:67396200-67402400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:67396200-67406000	Weak transcription	NHDF-Ad	bronchial
7	chr8:67396800-67404800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:67397200-67403800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:67398400-67402800	Weak transcription	Osteobl	bone
10	chr8:67398400-67404000	Enhancers	Primary B cells from cord blood	blood
11	chr8:67398600-67402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:67398600-67405200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:67398800-67403200	Enhancers	GM12878-XiMat	blood
14	chr8:67398800-67405800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:67399600-67400400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:67399800-67401400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:67399800-67401400	Enhancers	NHLF	lung
18	chr8:67400000-67400400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:67400000-67400400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:67400000-67404400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:67400000-67404400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:67400000-67404400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:67400000-67404600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:67400200-67400400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:67400200-67400800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr8:67400200-67401200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:67400200-67401800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:67400200-67402800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:67400200-67406600	Weak transcription	Spleen	Spleen

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