Variant report

Variant	rs2433594
Chromosome Location	chr8:67363241-67363242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:67363180-67363450	GM12866	blood:	n/a	chr8:67363416-67363434 chr8:67363418-67363439 chr8:67363419-67363427

No.	Distal block	Cell Line	Cell type
1	chr8:67347726..67350540-chr8:67362226..67363853,2	K562	blood:
2	chr8:67343549..67345743-chr8:67361458..67364132,2	K562	blood:
3	chr8:67360913..67363800-chr8:67364065..67366392,2	MCF-7	breast:
4	chr8:67358368..67361034-chr8:67361272..67364476,3	K562	blood:

Variant related genes	Relation type
ADHFE1	TF binding region
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17405528	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2433593	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2465988	0.83[YRI][hapmap]
rs2555563	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2555564	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555567	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2555573	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]
rs2555576	0.93[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555579	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555586	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs2555588	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2555589	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555590	0.83[YRI][hapmap]
rs2718989	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2718993	0.83[YRI][hapmap]
rs2718997	1.00[CEU][hapmap]
rs2718998	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]
rs56256543	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60331121	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62511170	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62511216	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62511222	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62511947	0.82[EUR][1000 genomes]
rs7014306	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7015637	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2433594	ADHFE1	cis	parietal	SCAN
rs2433594	ADHFE1	cis	Artery Tibial	GTEx
rs2433594	ADHFE1	cis	cerebellum	SCAN
rs2433594	ADHFE1	cis	Thyroid	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
2	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
3	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
7	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
11	chr8:67355000-67365200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:67356200-67374400	Strong transcription	Liver	Liver
13	chr8:67356400-67366000	Weak transcription	Fetal Brain Female	brain
14	chr8:67356800-67365600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr8:67357400-67365000	Weak transcription	Primary T cells from cord blood	blood
16	chr8:67357800-67363400	Strong transcription	Left Ventricle	heart
17	chr8:67358400-67364200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:67358600-67364600	Weak transcription	Right Atrium	heart
19	chr8:67358600-67365800	Strong transcription	Fetal Lung	lung
20	chr8:67358800-67365400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:67359000-67365000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:67359000-67365200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:67359000-67365400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
25	chr8:67359200-67364200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:67359200-67364800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:67359200-67365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:67359200-67367200	Weak transcription	HSMM	muscle
29	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:67359400-67364200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:67359400-67366400	Strong transcription	Fetal Intestine Large	intestine
33	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
34	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:67360200-67366000	Strong transcription	Aorta	Aorta
36	chr8:67360200-67366000	Strong transcription	Lung	lung
37	chr8:67360200-67366400	Strong transcription	Ovary	ovary
38	chr8:67360400-67363400	Strong transcription	Placenta	Placenta
39	chr8:67360600-67369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:67360600-67369600	Strong transcription	Brain Hippocampus Middle	brain
41	chr8:67360800-67365000	Strong transcription	Adipose Nuclei	Adipose
42	chr8:67360800-67365400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:67360800-67365600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:67360800-67366000	Strong transcription	Brain Anterior Caudate	brain
45	chr8:67360800-67366200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:67360800-67366400	Strong transcription	Pancreas	Pancrea
47	chr8:67360800-67366600	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr8:67360800-67368000	Strong transcription	Brain Substantia Nigra	brain
49	chr8:67360800-67369400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:67360800-67369400	Strong transcription	Fetal Muscle Leg	muscle

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