Variant report

Variant	rs60739014
Chromosome Location	chr7:69280975-69280976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1008379	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10085775	0.98[ASN][1000 genomes]
rs1014382	0.94[ASN][1000 genomes]
rs1014417	0.81[EUR][1000 genomes]
rs10237145	0.98[ASN][1000 genomes]
rs10241485	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10259748	0.81[EUR][1000 genomes]
rs11765886	0.96[ASN][1000 genomes]
rs12333508	0.83[ASN][1000 genomes]
rs12698812	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698814	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698815	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698820	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698826	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12698838	0.80[ASN][1000 genomes]
rs12698841	0.80[ASN][1000 genomes]
rs13228464	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13231497	0.80[ASN][1000 genomes]
rs13232095	0.88[ASN][1000 genomes]
rs13236841	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13242485	0.80[ASN][1000 genomes]
rs1468588	0.83[ASN][1000 genomes]
rs17140933	0.81[EUR][1000 genomes]
rs17353815	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17458097	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058395	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs210598	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210600	0.98[ASN][1000 genomes]
rs210603	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2159679	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533432	0.94[ASN][1000 genomes]
rs2533434	0.93[ASN][1000 genomes]
rs2533440	0.83[ASN][1000 genomes]
rs2533446	0.83[ASN][1000 genomes]
rs2533447	0.83[ASN][1000 genomes]
rs2851485	0.83[ASN][1000 genomes]
rs2851488	0.94[ASN][1000 genomes]
rs2851500	0.83[ASN][1000 genomes]
rs2851504	0.84[ASN][1000 genomes]
rs2851509	0.83[ASN][1000 genomes]
rs2851512	0.83[ASN][1000 genomes]
rs2851517	0.94[ASN][1000 genomes]
rs2903097	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34221396	0.81[EUR][1000 genomes]
rs34249708	0.99[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35322474	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717521	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs521259	0.98[ASN][1000 genomes]
rs55990156	0.81[EUR][1000 genomes]
rs563740	0.94[ASN][1000 genomes]
rs588004	0.94[ASN][1000 genomes]
rs608796	0.94[ASN][1000 genomes]
rs611052	0.94[ASN][1000 genomes]
rs611573	0.94[ASN][1000 genomes]
rs622767	0.94[ASN][1000 genomes]
rs624626	0.94[ASN][1000 genomes]
rs6460528	0.91[ASN][1000 genomes]
rs674865	0.94[ASN][1000 genomes]
rs6955815	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6957302	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6959766	0.94[ASN][1000 genomes]
rs6963101	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6963882	0.81[EUR][1000 genomes]
rs6974004	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6980307	0.81[EUR][1000 genomes]
rs720056	0.83[ASN][1000 genomes]
rs763759	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7779308	0.80[ASN][1000 genomes]
rs7781403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793984	0.98[ASN][1000 genomes]
rs7808773	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7809145	0.81[EUR][1000 genomes]
rs917616	0.94[ASN][1000 genomes]
rs9332399	0.81[EUR][1000 genomes]
rs9638575	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs981291	0.83[ASN][1000 genomes]
rs988282	0.83[ASN][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	chr7:69278800-69281000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:69279000-69281800	Weak transcription	Fetal Thymus	thymus
11	chr7:69279000-69287000	Weak transcription	GM12878-XiMat	blood
12	chr7:69279200-69282000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:69279800-69281400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:69279800-69281400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:69279800-69281600	Weak transcription	HSMM	muscle
16	chr7:69279800-69282000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:69279800-69282000	Weak transcription	Fetal Brain Male	brain
18	chr7:69279800-69282200	Weak transcription	Right Ventricle	heart
19	chr7:69279800-69282600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:69279800-69282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:69279800-69282600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:69279800-69282600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:69279800-69282600	Weak transcription	Lung	lung
24	chr7:69279800-69282800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:69279800-69283200	Enhancers	NHDF-Ad	bronchial
26	chr7:69279800-69285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:69279800-69289000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:69279800-69289600	Weak transcription	Psoas Muscle	Psoas
29	chr7:69280000-69281000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:69280000-69281000	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:69280000-69281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:69280000-69281200	Enhancers	Brain Germinal Matrix	brain
33	chr7:69280000-69281200	Weak transcription	Placenta	Placenta
34	chr7:69280000-69281800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:69280000-69281800	Weak transcription	Fetal Lung	lung
36	chr7:69280000-69282000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:69280000-69282000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:69280000-69282000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:69280000-69282000	Weak transcription	Right Atrium	heart
40	chr7:69280000-69282000	Weak transcription	NH-A	brain
41	chr7:69280000-69282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:69280000-69282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:69280000-69282600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:69280000-69282800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:69280200-69281400	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:69280200-69281400	Weak transcription	Ovary	ovary
47	chr7:69280200-69281400	Weak transcription	HSMMtube	muscle
48	chr7:69280200-69281600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:69280200-69281800	Weak transcription	Adipose Nuclei	Adipose
50	chr7:69280200-69281800	Weak transcription	Brain Anterior Caudate	brain

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