Variant report

Variant	rs60046069
Chromosome Location	chr7:124530823-124530824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs34065666	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34721371	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55654359	0.83[EUR][1000 genomes]
rs56135137	0.80[AFR][1000 genomes]
rs57593125	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57883866	0.83[EUR][1000 genomes]
rs58372288	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59044225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59045238	0.88[AFR][1000 genomes]
rs59572327	0.83[EUR][1000 genomes]
rs59653477	0.83[EUR][1000 genomes]
rs59802163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66461856	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs66480671	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs66528014	0.83[EUR][1000 genomes]
rs66539836	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66578146	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs66639470	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66965758	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66979057	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67166441	0.83[EUR][1000 genomes]
rs67326132	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67476012	0.85[AFR][1000 genomes]
rs67985498	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs68016764	0.83[AFR][1000 genomes]
rs73225404	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73443852	0.83[EUR][1000 genomes]
rs7801681	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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
11	esv2756137	chr7:124521049-124558049	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
3	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:124466800-124540800	Weak transcription	Gastric	stomach
6	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
7	chr7:124487200-124534800	Weak transcription	Fetal Heart	heart
8	chr7:124488400-124531200	Weak transcription	Osteobl	bone
9	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:124503000-124531000	Weak transcription	GM12878-XiMat	blood
12	chr7:124505600-124531000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:124506600-124540600	Weak transcription	Aorta	Aorta
14	chr7:124506800-124540600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:124507200-124531000	Weak transcription	K562	blood
16	chr7:124518000-124535200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:124520200-124531000	Weak transcription	Brain Angular Gyrus	brain
18	chr7:124520200-124534400	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:124520400-124534600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:124520400-124534800	Weak transcription	Brain Substantia Nigra	brain
21	chr7:124522800-124568400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:124523400-124531800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:124525600-124535200	Weak transcription	Psoas Muscle	Psoas
24	chr7:124526600-124532000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:124527200-124532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:124527200-124537400	Weak transcription	HMEC	breast
27	chr7:124527600-124532000	Weak transcription	NHLF	lung
28	chr7:124527600-124532800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:124527600-124533000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:124527600-124562200	Weak transcription	A549	lung
31	chr7:124527600-124569000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:124527600-124569000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:124527800-124540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:124527800-124540800	Weak transcription	Placenta	Placenta
35	chr7:124528000-124567400	Weak transcription	HepG2	liver
36	chr7:124528200-124532800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:124528400-124542800	Weak transcription	Spleen	Spleen
38	chr7:124528600-124531200	Strong transcription	Primary B cells from cord blood	blood
39	chr7:124528600-124532000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:124528600-124532800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:124528600-124532800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:124528600-124532800	Strong transcription	Liver	Liver
43	chr7:124528600-124538800	Weak transcription	Brain Germinal Matrix	brain
44	chr7:124528800-124531000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:124528800-124532400	Strong transcription	Primary T cells from cord blood	blood
46	chr7:124528800-124532400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:124528800-124532400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:124528800-124532800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:124528800-124532800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:124528800-124540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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