Variant report

Variant	rs60659484
Chromosome Location	chr7:69281018-69281019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11971626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975908	1.00[EUR][1000 genomes]
rs11979460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11982691	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56661227	1.00[EUR][1000 genomes]
rs59483768	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60431977	1.00[EUR][1000 genomes]
rs61510749	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61745341	1.00[EUR][1000 genomes]
rs6959561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976556	0.83[AFR][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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69265800-69282600	Weak transcription	Pancreas	Pancrea
2	chr7:69276800-69282800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:69277200-69282400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:69277800-69283200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:69277800-69285000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:69277800-69285000	Enhancers	Fetal Heart	heart
7	chr7:69277800-69286200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:69278400-69286000	Enhancers	Rectal Smooth Muscle	rectum
9	chr7:69279000-69281800	Weak transcription	Fetal Thymus	thymus
10	chr7:69279000-69287000	Weak transcription	GM12878-XiMat	blood
11	chr7:69279200-69282000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:69279800-69281400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:69279800-69281400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:69279800-69281600	Weak transcription	HSMM	muscle
15	chr7:69279800-69282000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:69279800-69282000	Weak transcription	Fetal Brain Male	brain
17	chr7:69279800-69282200	Weak transcription	Right Ventricle	heart
18	chr7:69279800-69282600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:69279800-69282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:69279800-69282600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:69279800-69282600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:69279800-69282600	Weak transcription	Lung	lung
23	chr7:69279800-69282800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:69279800-69283200	Enhancers	NHDF-Ad	bronchial
25	chr7:69279800-69285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:69279800-69289000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:69279800-69289600	Weak transcription	Psoas Muscle	Psoas
28	chr7:69280000-69281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:69280000-69281200	Enhancers	Brain Germinal Matrix	brain
30	chr7:69280000-69281200	Weak transcription	Placenta	Placenta
31	chr7:69280000-69281800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:69280000-69281800	Weak transcription	Fetal Lung	lung
33	chr7:69280000-69282000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:69280000-69282000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:69280000-69282000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:69280000-69282000	Weak transcription	Right Atrium	heart
37	chr7:69280000-69282000	Weak transcription	NH-A	brain
38	chr7:69280000-69282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:69280000-69282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:69280000-69282600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:69280000-69282800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:69280200-69281400	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:69280200-69281400	Weak transcription	Ovary	ovary
44	chr7:69280200-69281400	Weak transcription	HSMMtube	muscle
45	chr7:69280200-69281600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:69280200-69281800	Weak transcription	Adipose Nuclei	Adipose
47	chr7:69280200-69281800	Weak transcription	Brain Anterior Caudate	brain
48	chr7:69280200-69281800	Weak transcription	Fetal Brain Female	brain
49	chr7:69280200-69282000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:69280200-69282000	Weak transcription	Brain Substantia Nigra	brain

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