Variant report

Variant	rs10874732
Chromosome Location	chr1:93123559-93123560
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93119617..93122057-chr1:93123545..93126419,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1003116	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1034218	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10735781	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747446	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10782936	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10782937	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10782941	0.86[EUR][1000 genomes]
rs10874710	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874711	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10874724	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874725	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10874726	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874727	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874733	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874736	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874738	0.84[EUR][1000 genomes]
rs11164785	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11164789	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164791	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164796	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11164807	0.84[EUR][1000 genomes]
rs11164810	0.83[EUR][1000 genomes]
rs12021539	0.80[EUR][1000 genomes]
rs12025792	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12123935	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12401423	0.81[EUR][1000 genomes]
rs1337107	0.87[EUR][1000 genomes]
rs1535372	0.81[EUR][1000 genomes]
rs2065915	0.86[EUR][1000 genomes]
rs2107518	0.85[EUR][1000 genomes]
rs2107519	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2391197	0.88[EUR][1000 genomes]
rs35029291	0.83[EUR][1000 genomes]
rs3903212	0.82[EUR][1000 genomes]
rs3936944	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3936945	0.85[EUR][1000 genomes]
rs4294422	0.84[EUR][1000 genomes]
rs4294424	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480368	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4847267	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4847301	0.89[EUR][1000 genomes]
rs4847306	0.87[EUR][1000 genomes]
rs4847311	0.81[EUR][1000 genomes]
rs4847432	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970707	0.83[EUR][1000 genomes]
rs6603986	0.81[EUR][1000 genomes]
rs6603989	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6603992	0.81[EUR][1000 genomes]
rs6603997	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6604007	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6604008	0.91[EUR][1000 genomes]
rs6604013	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6604014	0.87[EUR][1000 genomes]
rs6660136	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6660962	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6666831	0.87[EUR][1000 genomes]
rs6675753	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6675757	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6680578	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682801	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6695638	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6697491	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs722356	0.81[EUR][1000 genomes]
rs7417452	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7418336	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7513775	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7514334	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521752	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7530780	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535490	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539761	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7541588	0.83[EUR][1000 genomes]
rs7541942	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7546197	0.92[EUR][1000 genomes]
rs7551324	0.81[EUR][1000 genomes]
rs911523	0.91[EUR][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	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10874732	EVI5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93053600-93166200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:93098400-93205400	Weak transcription	NHLF	lung
3	chr1:93101600-93163600	Weak transcription	Colonic Mucosa	Colon
4	chr1:93102000-93157600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:93117800-93123600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:93118600-93123800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr1:93119000-93123600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr1:93119200-93123600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr1:93119600-93123600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:93119600-93123600	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr1:93119600-93130800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:93120000-93171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:93120200-93123800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:93120400-93123600	ZNF genes & repeats	NHEK	skin
15	chr1:93120600-93124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:93120600-93126000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:93121200-93157400	Weak transcription	HUVEC	blood vessel
18	chr1:93121400-93123600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:93121400-93131600	Weak transcription	Osteobl	bone
20	chr1:93121400-93159000	Weak transcription	NH-A	brain
21	chr1:93121400-93162200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:93121600-93123600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:93121600-93130800	Strong transcription	Liver	Liver
24	chr1:93121600-93166000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:93122000-93123600	Strong transcription	Primary B cells from cord blood	blood
26	chr1:93122000-93127600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:93122000-93145200	Weak transcription	HMEC	breast
28	chr1:93122000-93154800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:93122000-93163200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:93122200-93123800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:93122200-93148200	Weak transcription	Fetal Heart	heart
32	chr1:93122400-93123600	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr1:93122400-93123800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:93122600-93123600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr1:93122600-93123600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:93122600-93123600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:93122600-93123600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr1:93122600-93123600	Strong transcription	Fetal Brain Male	brain
39	chr1:93122600-93123600	ZNF genes & repeats	Fetal Lung	lung
40	chr1:93122600-93123600	Strong transcription	Pancreas	Pancrea
41	chr1:93122600-93123800	ZNF genes & repeats	Brain Hippocampus Middle	brain
42	chr1:93122600-93123800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr1:93122600-93123800	ZNF genes & repeats	Placenta	Placenta
44	chr1:93122600-93149200	Weak transcription	A549	lung
45	chr1:93122800-93123600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:93122800-93123600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr1:93122800-93123600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:93122800-93123600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr1:93122800-93123600	ZNF genes & repeats	Aorta	Aorta
50	chr1:93122800-93123600	Strong transcription	Brain Angular Gyrus	brain

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