Variant report

Variant	rs11164789
Chromosome Location	chr1:93113685-93113686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1003116	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1034218	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1059267	0.82[EUR][1000 genomes]
rs1059268	0.82[EUR][1000 genomes]
rs10735781	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10747446	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10782936	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10782937	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10782941	0.83[EUR][1000 genomes]
rs10874710	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10874711	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874724	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10874725	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10874726	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874727	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874732	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10874733	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10874736	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10874738	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11164785	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11164791	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164796	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11164807	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11164810	0.82[EUR][1000 genomes]
rs12021539	0.80[EUR][1000 genomes]
rs12025792	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12123935	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12401423	0.80[EUR][1000 genomes]
rs1325434	0.81[EUR][1000 genomes]
rs1337107	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1535372	0.81[EUR][1000 genomes]
rs1886684	0.82[EUR][1000 genomes]
rs2065915	0.83[EUR][1000 genomes]
rs2107518	0.84[EUR][1000 genomes]
rs2107519	0.87[EUR][1000 genomes]
rs2391197	0.84[EUR][1000 genomes]
rs35029291	0.85[EUR][1000 genomes]
rs3903212	0.86[EUR][1000 genomes]
rs3936944	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3936945	0.89[EUR][1000 genomes]
rs4294422	0.88[EUR][1000 genomes]
rs4294424	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4480368	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4484938	0.80[EUR][1000 genomes]
rs4847267	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847301	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4847306	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4847311	0.80[EUR][1000 genomes]
rs4847432	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4970707	0.86[EUR][1000 genomes]
rs6603976	0.80[EUR][1000 genomes]
rs6603986	0.84[EUR][1000 genomes]
rs6603989	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6603992	0.84[EUR][1000 genomes]
rs6603997	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6604007	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6604008	0.86[EUR][1000 genomes]
rs6604013	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6604014	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6660136	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6660962	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6666831	0.86[EUR][1000 genomes]
rs6675753	0.86[EUR][1000 genomes]
rs6675757	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6680578	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6682801	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6695638	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6697491	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs722356	0.85[EUR][1000 genomes]
rs7417452	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7418336	0.87[EUR][1000 genomes]
rs7513775	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7514156	0.82[EUR][1000 genomes]
rs7514334	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7521752	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7530780	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7535490	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7539761	0.83[EUR][1000 genomes]
rs7541942	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7546197	0.86[EUR][1000 genomes]
rs7551324	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs911523	0.86[EUR][1000 genomes]
rs912796	0.81[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
rs11164789	EVI5	cis	brain	BrainEAC

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93052000-93119400	Weak transcription	NHEK	skin
2	chr1:93053600-93166200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:93062000-93118800	Weak transcription	HMEC	breast
4	chr1:93065200-93118600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:93065800-93119600	Weak transcription	NH-A	brain
6	chr1:93066800-93114600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:93069600-93119600	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:93089800-93114200	Weak transcription	HSMM	muscle
9	chr1:93098400-93205400	Weak transcription	NHLF	lung
10	chr1:93100600-93118600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:93101200-93114600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:93101200-93118600	Weak transcription	Aorta	Aorta
13	chr1:93101200-93118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:93101400-93118200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:93101400-93118200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:93101400-93118200	Weak transcription	Left Ventricle	heart
17	chr1:93101400-93118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:93101400-93118400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:93101400-93118400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:93101400-93118400	Weak transcription	Fetal Stomach	stomach
21	chr1:93101400-93118600	Weak transcription	Lung	lung
22	chr1:93101400-93118600	Weak transcription	Right Ventricle	heart
23	chr1:93101400-93118800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:93101400-93119000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:93101400-93119000	Weak transcription	Gastric	stomach
26	chr1:93101600-93118400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:93101600-93118600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:93101600-93120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:93101600-93163600	Weak transcription	Colonic Mucosa	Colon
30	chr1:93101800-93118200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:93101800-93118600	Weak transcription	HSMMtube	muscle
32	chr1:93101800-93119200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:93101800-93119600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:93102000-93114400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:93102000-93115200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:93102000-93117600	Weak transcription	Fetal Intestine Large	intestine
37	chr1:93102000-93118200	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:93102000-93118400	Weak transcription	Primary B cells from cord blood	blood
39	chr1:93102000-93118600	Weak transcription	Adipose Nuclei	Adipose
40	chr1:93102000-93118800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:93102000-93118800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:93102000-93119000	Weak transcription	Placenta	Placenta
43	chr1:93102000-93119200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:93102000-93119800	Weak transcription	Brain Angular Gyrus	brain
45	chr1:93102000-93157600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:93102200-93117800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:93102200-93117800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:93102200-93118200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:93102200-93118200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:93102200-93118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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