Variant report

Variant	rs60579420
Chromosome Location	chr1:76763943-76763944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11162114	0.81[EUR][1000 genomes]
rs11162115	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12071138	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12124295	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12124554	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12125121	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12125168	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12126170	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12127441	0.80[EUR][1000 genomes]
rs12127832	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12131613	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17670910	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17671689	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2065793	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2210832	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2893415	0.85[EUR][1000 genomes]
rs35517533	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3862899	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3862900	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3916214	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4262595	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4290109	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55805865	0.80[EUR][1000 genomes]
rs55930988	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6672694	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6694998	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6697478	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675958	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72675960	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72675971	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76755800-76783000	Weak transcription	Fetal Lung	lung
2	chr1:76756600-76764200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:76756600-76764400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:76757200-76764200	Weak transcription	Fetal Thymus	thymus
5	chr1:76757200-76764400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:76759800-76766600	Weak transcription	Brain Substantia Nigra	brain
7	chr1:76760400-76779200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:76760800-76764600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:76761000-76766200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:76761200-76764000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:76761200-76768200	Enhancers	Primary T cells from cord blood	blood
12	chr1:76761400-76765200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:76761600-76764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:76762000-76764200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:76762200-76764000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:76762200-76764000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:76762400-76764200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:76762400-76764200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:76762400-76764200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:76762800-76764000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:76763200-76767600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:76763800-76764800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:76763800-76764800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:76763800-76765200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:76763800-76765600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:76763800-76767000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:76763800-76768600	Enhancers	Primary T helper cells fromperipheralblood	blood

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