Variant report

Variant	rs2107518
Chromosome Location	chr1:93247835-93247836
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1003116	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10735781	0.84[EUR][1000 genomes]
rs10747446	0.86[EUR][1000 genomes]
rs10782937	0.85[EUR][1000 genomes]
rs10782941	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10874724	0.80[EUR][1000 genomes]
rs10874725	0.80[EUR][1000 genomes]
rs10874726	0.84[EUR][1000 genomes]
rs10874727	0.84[EUR][1000 genomes]
rs10874732	0.85[EUR][1000 genomes]
rs10874733	0.84[EUR][1000 genomes]
rs10874736	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10874738	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11164789	0.84[EUR][1000 genomes]
rs11164791	0.85[EUR][1000 genomes]
rs11164796	0.87[EUR][1000 genomes]
rs11164807	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11164810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12021539	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12025792	0.84[EUR][1000 genomes]
rs12123935	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12401423	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1337107	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1535372	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2065915	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2107519	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2391197	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3936944	0.84[EUR][1000 genomes]
rs3936945	0.80[EUR][1000 genomes]
rs4294424	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4480368	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4847267	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4847301	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4847306	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4847311	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847336	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4847432	0.84[EUR][1000 genomes]
rs6604007	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6604008	0.85[EUR][1000 genomes]
rs6604013	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6604014	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6660136	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6666831	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6675753	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6675757	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6680578	0.89[EUR][1000 genomes]
rs6682801	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6697491	0.80[EUR][1000 genomes]
rs7418336	0.84[EUR][1000 genomes]
rs7514334	0.86[EUR][1000 genomes]
rs7530780	0.85[EUR][1000 genomes]
rs7535490	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7539761	0.80[EUR][1000 genomes]
rs7546197	0.83[EUR][1000 genomes]
rs7549341	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7551324	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs911523	0.83[EUR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2107518	EVI5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
2	chr1:93214000-93248400	Weak transcription	Lung	lung
3	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
4	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:93222400-93248200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:93222400-93248400	Weak transcription	Placenta	Placenta
7	chr1:93225600-93248000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:93226000-93249200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:93231600-93248000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:93234400-93248000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:93234600-93248000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:93234800-93248200	Weak transcription	Primary B cells from cord blood	blood
13	chr1:93234800-93249200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:93235000-93248200	Weak transcription	NHLF	lung
15	chr1:93235600-93248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:93239600-93249400	Weak transcription	Ovary	ovary
17	chr1:93240200-93248400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:93240600-93249400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:93240600-93249400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:93240800-93248000	Weak transcription	K562	blood
21	chr1:93240800-93248400	Weak transcription	Pancreas	Pancrea
22	chr1:93240800-93248800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:93240800-93249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:93241000-93249400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:93241000-93249400	Weak transcription	Brain Angular Gyrus	brain
26	chr1:93241200-93248000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:93241200-93248200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:93241200-93249400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:93241400-93248600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:93241600-93248600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:93242400-93248400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:93243400-93249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:93243600-93249200	Weak transcription	GM12878-XiMat	blood
34	chr1:93244000-93248400	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:93244200-93248600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:93244200-93249000	Weak transcription	Aorta	Aorta
37	chr1:93244600-93248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:93244600-93248000	Weak transcription	Osteobl	bone
39	chr1:93244600-93249000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:93244600-93249400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:93244800-93248200	Weak transcription	Stomach Mucosa	stomach
42	chr1:93244800-93249800	Weak transcription	Esophagus	oesophagus
43	chr1:93245200-93249200	Weak transcription	NH-A	brain
44	chr1:93245400-93248400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:93245600-93248000	Enhancers	Right Ventricle	heart
46	chr1:93245800-93248000	Weak transcription	Colonic Mucosa	Colon
47	chr1:93246000-93248000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:93246000-93248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:93246000-93249600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:93246000-93249600	Weak transcription	Small Intestine	intestine

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