Variant report

Variant	rs2718998
Chromosome Location	chr8:67375638-67375639
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67373363..67378961-chr8:67380708..67384244,6	MCF-7	breast:
2	chr8:67374151..67375671-chr8:67623910..67626033,2	MCF-7	breast:
3	chr8:67373454..67375848-chr8:67443609..67445864,2	MCF-7	breast:
4	chr8:67370426..67372835-chr8:67375511..67377950,2	K562	blood:
5	chr8:67371423..67376205-chr8:67520601..67527002,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185697	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17404672	0.81[AMR][1000 genomes]
rs17405528	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.93[AMR][1000 genomes]
rs2433593	0.98[AMR][1000 genomes];0.83[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];0.85[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[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];0.85[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2465988	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs2465989	0.85[AFR][1000 genomes]
rs2555563	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2555564	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2555567	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2555573	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]
rs2555576	0.93[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap];0.89[AMR][1000 genomes]
rs2555577	0.85[AFR][1000 genomes]
rs2555579	0.93[AMR][1000 genomes]
rs2555586	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs2555588	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2555589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2718992	0.83[AFR][1000 genomes]
rs2718993	0.83[YRI][hapmap]
rs2718997	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs56256543	0.83[AMR][1000 genomes]
rs60331121	0.87[AMR][1000 genomes]
rs62511170	0.85[AMR][1000 genomes]
rs62511216	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62511222	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62511944	0.81[AMR][1000 genomes]
rs62511945	0.81[AMR][1000 genomes]
rs7014306	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7015637	0.83[AMR][1000 genomes]
rs7835343	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2718998	ADHFE1	cis	parietal	SCAN
rs2718998	ADHFE1	cis	cerebellum	SCAN
rs2718998	ADHFE1	cis	Thyroid	GTEx
rs2718998	ADHFE1	cis	Artery Tibial	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
2	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
9	chr8:67366000-67376600	Weak transcription	Right Atrium	heart
10	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
11	chr8:67369000-67375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:67369000-67376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:67369000-67376000	Weak transcription	Fetal Heart	heart
14	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:67371200-67383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:67372000-67376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:67372200-67377600	Strong transcription	Adipose Nuclei	Adipose
19	chr8:67372400-67375800	Weak transcription	NHEK	skin
20	chr8:67372400-67377000	Strong transcription	Ovary	ovary
21	chr8:67372400-67378800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:67372600-67377800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:67372600-67381000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:67372600-67383600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:67372800-67375800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:67372800-67378200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:67372800-67380200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:67372800-67381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:67372800-67383600	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:67372800-67384400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:67373000-67384400	Weak transcription	Brain Angular Gyrus	brain
33	chr8:67373200-67376800	Strong transcription	Brain Cingulate Gyrus	brain
34	chr8:67373400-67377200	Strong transcription	Brain Substantia Nigra	brain
35	chr8:67373600-67376000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:67373600-67380400	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:67373800-67376000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:67373800-67379800	Weak transcription	Gastric	stomach
39	chr8:67373800-67385400	Weak transcription	Fetal Intestine Small	intestine
40	chr8:67374000-67376800	Genic enhancers	Placenta	Placenta
41	chr8:67374000-67379200	Weak transcription	Brain Anterior Caudate	brain
42	chr8:67374000-67381200	Weak transcription	Spleen	Spleen
43	chr8:67374400-67376800	Genic enhancers	Liver	Liver
44	chr8:67374400-67382200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:67374800-67375800	Enhancers	Stomach Smooth Muscle	stomach
46	chr8:67374800-67379400	Weak transcription	Aorta	Aorta
47	chr8:67374800-67384600	Weak transcription	Lung	lung
48	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
49	chr8:67375000-67375800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:67375000-67376200	Weak transcription	Fetal Lung	lung

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