Variant report

Variant	rs1374130
Chromosome Location	chr5:124298125-124298126
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10041724	0.87[ASN][1000 genomes]
rs10044837	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10055285	0.89[ASN][1000 genomes]
rs10057528	0.81[ASN][1000 genomes]
rs10057766	0.89[ASN][1000 genomes]
rs10060023	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10061263	0.82[ASN][1000 genomes]
rs10073890	0.82[ASN][1000 genomes]
rs10074013	0.82[ASN][1000 genomes]
rs10078386	0.83[CHB][hapmap]
rs10079602	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1026010	0.81[ASN][1000 genomes]
rs1031207	0.82[ASN][1000 genomes]
rs11241779	0.90[ASN][1000 genomes]
rs11743521	0.88[ASN][1000 genomes]
rs11743554	0.86[ASN][1000 genomes]
rs11951671	0.90[ASN][1000 genomes]
rs11958289	0.90[ASN][1000 genomes]
rs12109265	0.99[ASN][1000 genomes]
rs12652881	0.81[ASN][1000 genomes]
rs12652885	0.81[ASN][1000 genomes]
rs13158867	0.82[ASN][1000 genomes]
rs17152193	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2028854	0.82[ASN][1000 genomes]
rs35862376	0.90[ASN][1000 genomes]
rs36041674	0.88[ASN][1000 genomes]
rs4240384	0.99[ASN][1000 genomes]
rs4240385	0.89[ASN][1000 genomes]
rs4279337	0.82[ASN][1000 genomes]
rs4311414	0.99[ASN][1000 genomes]
rs4331894	0.99[ASN][1000 genomes]
rs4357030	0.90[ASN][1000 genomes]
rs4540171	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836131	0.82[ASN][1000 genomes]
rs56110557	0.80[ASN][1000 genomes]
rs6861021	0.91[ASN][1000 genomes]
rs6861089	0.90[ASN][1000 genomes]
rs6863192	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6869863	0.88[ASN][1000 genomes]
rs6872411	0.91[ASN][1000 genomes]
rs6875187	0.99[ASN][1000 genomes]
rs6875763	0.99[ASN][1000 genomes]
rs6876036	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895658	0.88[ASN][1000 genomes]
rs6898265	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs73782503	0.84[ASN][1000 genomes]
rs7732618	0.99[ASN][1000 genomes]
rs9327340	0.84[ASN][1000 genomes]
rs9968605	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1374130	ZNF608	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124284200-124301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:124288800-124298800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:124293000-124298200	Weak transcription	Brain Substantia Nigra	brain
4	chr5:124295600-124299000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:124296200-124298400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:124296200-124299000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:124296200-124299000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:124296200-124299000	Weak transcription	HMEC	breast
9	chr5:124296600-124298400	Weak transcription	Dnd41	blood
10	chr5:124296600-124299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:124297200-124298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:124297400-124298200	Enhancers	Fetal Muscle Leg	muscle
13	chr5:124297400-124300000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:124297600-124298600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:124297600-124300000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:124297600-124300200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:124297800-124298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:124297800-124298200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:124297800-124298400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr5:124297800-124299200	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:124297800-124299800	Enhancers	Adipose Nuclei	Adipose
22	chr5:124297800-124300000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:124298000-124298800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:124298000-124299200	Enhancers	Brain Anterior Caudate	brain
25	chr5:124298000-124299200	Enhancers	Brain Hippocampus Middle	brain
26	chr5:124298000-124300200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:124298000-124300200	Enhancers	HUES64 Cell Line	embryonic stem cell

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