Variant report

Variant	rs7014306
Chromosome Location	chr8:67365860-67365861
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	chr8:67365800-67365950	HL-60	blood:	n/a	n/a
2	SPI1	chr8:67365508-67366043	HL-60	blood:	n/a	chr8:67365794-67365807
3	CTCF	chr8:67365820-67365970	K562	blood:	n/a	n/a
4	FOXP2	chr8:67365499-67365917	SK-N-MC	brain:	n/a	n/a
5	CTCF	chr8:67365760-67365910	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr8:67365820-67365970	BE2_C	brain:	n/a	n/a
7	RAD21	chr8:67365827-67366004	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:67365326-67365871	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr8:67365854-67365880	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:67365832-67365925	MCF-7	breast:	n/a	n/a
11	FOXP2	chr8:67365753-67366129	PFSK-1	brain:	n/a	n/a
12	CTCF	chr8:67365720-67365870	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:67365840-67365990	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67358722..67361670-chr8:67363913..67366041,2	MCF-7	breast:

Variant related genes	Relation type
ADHFE1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17405528	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2433593	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2433594	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]
rs2433596	1.00[CHD][hapmap]
rs2465983	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555563	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555564	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555567	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555573	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]
rs2555576	0.93[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2555579	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2555586	1.00[CHD][hapmap]
rs2555588	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555589	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2718989	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2718997	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2718998	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]
rs56256543	0.84[AMR][1000 genomes]
rs60331121	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511170	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511216	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511222	0.90[AMR][1000 genomes];0.92[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7014306	ADHFE1	cis	Artery Tibial	GTEx
rs7014306	ADHFE1	cis	Thyroid	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
5	chr8:67356200-67374400	Strong transcription	Liver	Liver
6	chr8:67356400-67366000	Weak transcription	Fetal Brain Female	brain
7	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
8	chr8:67359200-67367200	Weak transcription	HSMM	muscle
9	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:67359400-67366400	Strong transcription	Fetal Intestine Large	intestine
12	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
13	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:67360200-67366000	Strong transcription	Aorta	Aorta
15	chr8:67360200-67366000	Strong transcription	Lung	lung
16	chr8:67360200-67366400	Strong transcription	Ovary	ovary
17	chr8:67360600-67369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:67360600-67369600	Strong transcription	Brain Hippocampus Middle	brain
19	chr8:67360800-67366000	Strong transcription	Brain Anterior Caudate	brain
20	chr8:67360800-67366200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:67360800-67366400	Strong transcription	Pancreas	Pancrea
22	chr8:67360800-67366600	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr8:67360800-67368000	Strong transcription	Brain Substantia Nigra	brain
24	chr8:67360800-67369400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:67360800-67369400	Strong transcription	Fetal Muscle Leg	muscle
26	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
27	chr8:67361400-67366400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:67361800-67366400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:67362200-67367800	Weak transcription	Osteobl	bone
32	chr8:67362400-67367600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:67364000-67366000	Strong transcription	Gastric	stomach
34	chr8:67364000-67367600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:67364200-67368000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:67364200-67369600	Strong transcription	Fetal Stomach	stomach
37	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:67364600-67366000	Enhancers	Right Atrium	heart
39	chr8:67364600-67366200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:67364600-67366200	Enhancers	Left Ventricle	heart
41	chr8:67364600-67366200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:67364600-67366400	Enhancers	Psoas Muscle	Psoas
43	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
44	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:67364800-67366000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:67364800-67366000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:67364800-67368000	Weak transcription	NHEK	skin
48	chr8:67364800-67368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:67365000-67366000	Enhancers	Primary T cells from cord blood	blood

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