Variant report

Variant	rs66639470
Chromosome Location	chr7:124517630-124517631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs34065666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34721371	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35463079	0.86[EUR][1000 genomes]
rs55654359	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56135137	0.86[EUR][1000 genomes]
rs56403870	0.86[EUR][1000 genomes]
rs57593125	0.83[AMR][1000 genomes]
rs57883866	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58372288	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59044225	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59045238	0.86[EUR][1000 genomes]
rs59572327	1.00[EUR][1000 genomes]
rs59653477	1.00[EUR][1000 genomes]
rs59802163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60046069	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60278737	0.86[EUR][1000 genomes]
rs61126904	0.86[EUR][1000 genomes]
rs61504594	0.86[EUR][1000 genomes]
rs61660401	0.86[EUR][1000 genomes]
rs66461856	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66480671	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66501705	0.86[EUR][1000 genomes]
rs66506561	0.86[EUR][1000 genomes]
rs66528014	1.00[EUR][1000 genomes]
rs66539836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66578146	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66610287	0.86[EUR][1000 genomes]
rs66965758	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66979057	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67166441	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs67326132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67476012	0.86[EUR][1000 genomes]
rs67611448	0.86[EUR][1000 genomes]
rs67712588	0.86[EUR][1000 genomes]
rs67985498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68016764	0.86[EUR][1000 genomes]
rs68099817	0.86[EUR][1000 genomes]
rs6954402	0.86[EUR][1000 genomes]
rs73223520	0.86[EUR][1000 genomes]
rs73223522	0.86[EUR][1000 genomes]
rs73223548	0.86[EUR][1000 genomes]
rs73225404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443852	1.00[EUR][1000 genomes]
rs7801681	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1829082	chr7:124503189-124556473	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
2	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:124464200-124519400	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
6	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:124466800-124540800	Weak transcription	Gastric	stomach
9	chr7:124467600-124530600	Weak transcription	NH-A	brain
10	chr7:124477000-124530800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
12	chr7:124487200-124534800	Weak transcription	Fetal Heart	heart
13	chr7:124488400-124531200	Weak transcription	Osteobl	bone
14	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:124498000-124529000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:124498200-124518400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:124502200-124528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:124503000-124531000	Weak transcription	GM12878-XiMat	blood
20	chr7:124503600-124528600	Weak transcription	Liver	Liver
21	chr7:124503800-124528600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:124503800-124529000	Weak transcription	Adipose Nuclei	Adipose
23	chr7:124503800-124529200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:124503800-124529400	Weak transcription	Left Ventricle	heart
25	chr7:124504200-124519600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:124504200-124529200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:124504200-124530400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:124505600-124531000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:124506600-124540600	Weak transcription	Aorta	Aorta
30	chr7:124506800-124527600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:124506800-124540600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:124507000-124528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:124507000-124528600	Weak transcription	Primary B cells from cord blood	blood
34	chr7:124507000-124529400	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:124507200-124528800	Weak transcription	Primary T cells from cord blood	blood
36	chr7:124507200-124529000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:124507200-124529000	Weak transcription	Fetal Lung	lung
38	chr7:124507200-124529200	Weak transcription	HSMM	muscle
39	chr7:124507200-124531000	Weak transcription	K562	blood
40	chr7:124507400-124529000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:124507600-124528600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:124507600-124528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:124507600-124528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:124507600-124529200	Weak transcription	Ovary	ovary
45	chr7:124508000-124529000	Weak transcription	Dnd41	blood
46	chr7:124516800-124522400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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