Variant report

Variant	rs7418336
Chromosome Location	chr1:93163385-93163386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1003116	0.95[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1034218	0.86[CEU][hapmap]
rs10735781	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10747446	0.86[CEU][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs10782936	0.86[CEU][hapmap];0.90[CHD][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs10782937	0.84[EUR][1000 genomes]
rs10782941	0.84[EUR][1000 genomes]
rs10874710	0.86[CEU][hapmap]
rs10874711	0.86[CEU][hapmap]
rs10874724	0.81[EUR][1000 genomes]
rs10874725	0.81[EUR][1000 genomes]
rs10874726	0.85[EUR][1000 genomes]
rs10874727	0.86[CEU][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10874732	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10874733	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10874736	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10874738	0.84[EUR][1000 genomes]
rs11164789	0.87[EUR][1000 genomes]
rs11164791	0.91[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11164796	0.95[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11164807	0.83[EUR][1000 genomes]
rs11164810	0.82[EUR][1000 genomes]
rs12025792	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs12123935	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12401423	0.84[EUR][1000 genomes]
rs1337107	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs1535372	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1886684	1.00[ASW][hapmap];0.91[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap]
rs1932965	0.82[CHB][hapmap]
rs2065915	0.91[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs2107518	0.84[EUR][1000 genomes]
rs2107519	0.90[EUR][1000 genomes]
rs2391197	0.88[EUR][1000 genomes]
rs3903212	0.85[CEU][hapmap]
rs3936944	0.84[EUR][1000 genomes]
rs3936945	0.85[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs3936946	0.82[CHB][hapmap]
rs4294422	0.82[CEU][hapmap];0.85[CHB][hapmap];0.85[TSI][hapmap]
rs4294424	0.86[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4480368	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4847267	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.83[LWK][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4847301	0.89[EUR][1000 genomes]
rs4847306	0.86[EUR][1000 genomes]
rs4847432	0.91[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4970700	0.82[CEU][hapmap];0.85[CHB][hapmap];0.85[TSI][hapmap]
rs4970707	0.81[CEU][hapmap]
rs6603986	0.82[CEU][hapmap];0.85[CHB][hapmap];0.85[TSI][hapmap]
rs6603992	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs6603997	0.86[CEU][hapmap]
rs6604007	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6604008	0.90[EUR][1000 genomes]
rs6604013	0.90[EUR][1000 genomes]
rs6604014	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.86[EUR][1000 genomes]
rs6660136	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6666831	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6675753	0.87[EUR][1000 genomes]
rs6675757	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6680578	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682801	0.86[CEU][hapmap];0.85[CHD][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs6697491	0.81[EUR][1000 genomes]
rs722356	0.86[CEU][hapmap]
rs7513775	0.86[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap]
rs7514334	0.89[EUR][1000 genomes]
rs7521752	0.86[CEU][hapmap]
rs7530780	1.00[ASW][hapmap];0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7535490	0.81[EUR][1000 genomes]
rs7539761	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7541588	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7546197	0.90[EUR][1000 genomes]
rs7551324	0.80[EUR][1000 genomes]
rs911523	0.90[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
rs7418336	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	chr1:93120000-93171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:93121600-93166000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:93122800-93169400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:93123400-93176200	Weak transcription	Psoas Muscle	Psoas
8	chr1:93123600-93166800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:93123600-93178800	Weak transcription	Aorta	Aorta
10	chr1:93123600-93213400	Weak transcription	Gastric	stomach
11	chr1:93132000-93164600	Weak transcription	Pancreas	Pancrea
12	chr1:93136000-93164600	Weak transcription	NHDF-Ad	bronchial
13	chr1:93142400-93171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:93146400-93164800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:93146600-93175600	Weak transcription	NHEK	skin
16	chr1:93148000-93166800	Weak transcription	K562	blood
17	chr1:93148600-93171000	Weak transcription	Hela-S3	cervix
18	chr1:93152600-93167000	Weak transcription	Primary T cells from cord blood	blood
19	chr1:93153200-93165000	Strong transcription	Liver	Liver
20	chr1:93153400-93170200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:93154000-93167600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:93154400-93166000	Weak transcription	Fetal Heart	heart
23	chr1:93155800-93213400	Weak transcription	Lung	lung
24	chr1:93156200-93165200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:93156200-93172800	Weak transcription	HepG2	liver
26	chr1:93156200-93174000	Weak transcription	A549	lung
27	chr1:93156800-93170800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:93157800-93163800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:93157800-93171000	Weak transcription	Stomach Mucosa	stomach
30	chr1:93157800-93175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:93158200-93164400	Weak transcription	HUVEC	blood vessel
32	chr1:93158200-93169400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:93158600-93163800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:93159000-93174800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:93159200-93163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:93159200-93164600	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:93160800-93164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:93160800-93165000	Weak transcription	Brain Anterior Caudate	brain
39	chr1:93160800-93166000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:93160800-93166800	Weak transcription	Osteobl	bone
41	chr1:93160800-93170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:93160800-93171000	Weak transcription	NH-A	brain
43	chr1:93160800-93174000	Weak transcription	Brain Angular Gyrus	brain
44	chr1:93160800-93175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:93160800-93175200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:93160800-93175200	Weak transcription	HSMM	muscle
47	chr1:93160800-93177000	Weak transcription	Ovary	ovary
48	chr1:93161000-93164000	Weak transcription	Adipose Nuclei	Adipose
49	chr1:93161000-93164800	Weak transcription	Fetal Lung	lung
50	chr1:93161000-93165800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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