Variant report

Variant	rs2718997
Chromosome Location	chr8:67373018-67373019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67341492..67343356-chr8:67372946..67374948,2	MCF-7	breast:
2	chr8:67347340..67349444-chr8:67372672..67374895,2	K562	blood:
3	chr8:67371423..67376205-chr8:67520601..67527002,8	MCF-7	breast:
4	chr8:67372183..67373683-chr8:67623863..67626623,2	MCF-7	breast:
5	chr8:67343368..67345307-chr8:67372235..67374136,2	K562	blood:

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

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10095792	0.89[ASN][1000 genomes]
rs10283103	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17405528	0.93[CEU][hapmap]
rs2433594	1.00[CEU][hapmap]
rs2465983	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2555567	0.80[EUR][1000 genomes]
rs2555573	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2555576	0.93[CEU][hapmap]
rs2555588	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555589	0.86[EUR][1000 genomes]
rs2718989	0.93[CEU][hapmap]
rs2718998	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4386964	0.89[ASN][1000 genomes]
rs56001676	0.89[ASN][1000 genomes]
rs56044023	0.89[ASN][1000 genomes]
rs57394870	0.89[ASN][1000 genomes]
rs59292708	1.00[ASN][1000 genomes]
rs59352083	0.94[ASN][1000 genomes]
rs60423755	0.94[ASN][1000 genomes]
rs61141626	0.94[ASN][1000 genomes]
rs62511216	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62511222	0.83[EUR][1000 genomes]
rs7014306	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73255675	1.00[ASN][1000 genomes]
rs73255676	0.94[ASN][1000 genomes]
rs73257635	0.89[ASN][1000 genomes]
rs73257637	0.94[ASN][1000 genomes]
rs73257641	0.94[ASN][1000 genomes]
rs73257643	0.94[ASN][1000 genomes]
rs73257644	0.94[ASN][1000 genomes]
rs73257646	0.94[ASN][1000 genomes]
rs73257648	0.94[ASN][1000 genomes]
rs73257650	0.94[ASN][1000 genomes]
rs73257661	0.84[ASN][1000 genomes]
rs957655	1.00[JPT][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2718997	ADHFE1	cis	Artery Tibial	GTEx
rs2718997	ADHFE1	cis	Thyroid	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67356200-67374400	Strong transcription	Liver	Liver
2	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
3	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
4	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
8	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:67365200-67374600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:67365600-67375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
15	chr8:67366000-67373400	Weak transcription	Gastric	stomach
16	chr8:67366000-67374000	Weak transcription	Right Ventricle	heart
17	chr8:67366000-67376600	Weak transcription	Right Atrium	heart
18	chr8:67366400-67373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
20	chr8:67368800-67374000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:67369000-67373400	Weak transcription	Lung	lung
22	chr8:67369000-67375400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:67369000-67375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:67369000-67376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:67369000-67376000	Weak transcription	Fetal Heart	heart
26	chr8:67369400-67373200	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:67369600-67373600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:67370800-67374600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:67371200-67383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:67372000-67373600	Genic enhancers	Stomach Smooth Muscle	stomach
33	chr8:67372000-67376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:67372200-67373600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:67372200-67373800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:67372200-67374000	Enhancers	Placenta	Placenta
37	chr8:67372200-67374000	Strong transcription	Fetal Stomach	stomach
38	chr8:67372200-67377600	Strong transcription	Adipose Nuclei	Adipose
39	chr8:67372400-67373400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:67372400-67374800	Strong transcription	Aorta	Aorta
41	chr8:67372400-67374800	Strong transcription	Pancreas	Pancrea
42	chr8:67372400-67374800	Weak transcription	A549	lung
43	chr8:67372400-67375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:67372400-67375800	Weak transcription	NHEK	skin
45	chr8:67372400-67377000	Strong transcription	Ovary	ovary
46	chr8:67372400-67378800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:67372600-67373200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:67372600-67373400	Weak transcription	Brain Substantia Nigra	brain
49	chr8:67372600-67375000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:67372600-67375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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