Variant report

Variant	rs2555573
Chromosome Location	chr8:67379951-67379952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57920618..57922939-chr8:67379137..67382122,2	MCF-7	breast:
2	chr8:67378228..67380679-chr8:67388244..67390416,2	MCF-7	breast:
3	chr8:67379259..67381817-chr8:67625879..67628203,2	MCF-7	breast:
4	chr8:67378110..67380525-chr8:67519992..67522222,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs17405528	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes]
rs2433593	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2433594	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2433595	0.85[AFR][1000 genomes]
rs2433596	1.00[CHD][hapmap]
rs2465983	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2465988	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs2465989	0.85[AFR][1000 genomes]
rs2555563	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2555564	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2555567	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555576	0.93[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap]
rs2555577	0.85[AFR][1000 genomes]
rs2555579	0.84[AMR][1000 genomes]
rs2555586	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs2555588	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555589	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555590	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs2718989	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2718992	0.83[AFR][1000 genomes]
rs2718993	0.83[YRI][hapmap]
rs2718997	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2718998	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62511216	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62511222	0.93[EUR][1000 genomes]
rs7014306	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	nsv465702	chr8:67375519-67385088	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv611457	chr8:67375519-67385088	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2555573	ADHFE1	cis	Thyroid	GTEx
rs2555573	ADHFE1	cis	cerebellum	SCAN
rs2555573	ADHFE1	cis	parietal	SCAN
rs2555573	ADHFE1	cis	Artery Tibial	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
2	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
5	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:67371200-67383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:67372600-67381000	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:67372600-67383600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:67372800-67380200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:67372800-67381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:67372800-67383600	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:67372800-67384400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:67373000-67384400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:67373600-67380400	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:67373800-67385400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:67374000-67381200	Weak transcription	Spleen	Spleen
19	chr8:67374400-67382200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:67374800-67384600	Weak transcription	Lung	lung
21	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
22	chr8:67375000-67384600	Weak transcription	Right Ventricle	heart
23	chr8:67376400-67382200	Weak transcription	NHEK	skin
24	chr8:67376400-67382800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:67376400-67383000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:67376400-67383800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:67376400-67384200	Weak transcription	HSMM	muscle
28	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
29	chr8:67376800-67380600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:67376800-67382200	Weak transcription	NH-A	brain
31	chr8:67376800-67383600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:67376800-67384000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:67376800-67384800	Weak transcription	Fetal Lung	lung
34	chr8:67377200-67381400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:67377200-67382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:67377200-67389400	Weak transcription	Brain Substantia Nigra	brain
37	chr8:67377400-67382800	Weak transcription	Hela-S3	cervix
38	chr8:67378200-67381800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:67378800-67380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:67378800-67380800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:67378800-67381000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr8:67378800-67381800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr8:67378800-67381800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:67379000-67380000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr8:67379000-67380200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr8:67379000-67381000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:67379000-67381000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:67379000-67381000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:67379200-67380000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:67379200-67380800	Strong transcription	Brain Anterior Caudate	brain

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