Variant report

Variant	rs7208451
Chromosome Location	chr17:67247042-67247043
allele	A/C
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	MEF2A	chr17:67246815-67247372	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr17:67246655-67247378	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr17:67246659-67247260	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr17:67246695-67247374	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr17:67246888-67247350	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ABCA5	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1476749	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16973883	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973905	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs17776943	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2067851	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28496489	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28592152	0.93[EUR][1000 genomes]
rs4553686	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968854	0.92[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes]
rs58324131	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60350983	1.00[ASN][1000 genomes]
rs6501290	0.89[CHB][hapmap]
rs7225918	0.90[EUR][1000 genomes]
rs73998226	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9302899	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes]
rs9889277	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894965	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9895649	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908248	0.90[EUR][1000 genomes]
rs9910364	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912665	0.92[CEU][hapmap];0.90[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	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv1055156	chr17:67239695-67272311	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
5	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3385918	chr17:67244757-67249155	Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
2	chr17:67215600-67249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:67224600-67248600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:67230600-67259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:67230800-67253400	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:67230800-67271800	Weak transcription	Pancreas	Pancrea
7	chr17:67231800-67249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:67231800-67252600	Weak transcription	Fetal Thymus	thymus
9	chr17:67231800-67254400	Weak transcription	Lung	lung
10	chr17:67232600-67249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:67234600-67249200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:67234800-67250600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:67236000-67283000	Weak transcription	Ovary	ovary
15	chr17:67236400-67252400	Weak transcription	Fetal Lung	lung
16	chr17:67236400-67278000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr17:67236600-67248600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr17:67236600-67251600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr17:67236800-67249000	Weak transcription	Brain Anterior Caudate	brain
20	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
21	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
22	chr17:67238200-67248600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:67238600-67247400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr17:67238800-67278000	Weak transcription	Thymus	Thymus
25	chr17:67239200-67248400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr17:67239200-67262400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:67239400-67252400	Weak transcription	HMEC	breast
28	chr17:67239600-67251000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:67240000-67247400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr17:67240000-67248400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
32	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:67240200-67248200	Weak transcription	Fetal Intestine Small	intestine
34	chr17:67240800-67248600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:67242000-67249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:67242000-67260600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr17:67242000-67265000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr17:67242200-67248400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:67242200-67249200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:67242200-67250400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:67242200-67265000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:67242200-67265000	Weak transcription	NHEK	skin
43	chr17:67242400-67248600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:67242400-67289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr17:67242800-67247800	Weak transcription	GM12878-XiMat	blood
46	chr17:67242800-67256400	Weak transcription	Small Intestine	intestine
47	chr17:67243000-67249600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr17:67243000-67264800	Weak transcription	NHDF-Ad	bronchial
49	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:67244000-67262400	Weak transcription	Placenta Amnion	Placenta Amnion

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