Variant report

Variant	rs4718450
Chromosome Location	chr7:66535742-66535743
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12530524	0.85[EUR][1000 genomes]
rs12530887	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12531516	0.87[AMR][1000 genomes]
rs12532160	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs12532208	0.93[AMR][1000 genomes]
rs12532995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534156	0.80[EUR][1000 genomes]
rs12534278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534327	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12535023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12536147	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12537353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12537633	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12537825	0.81[AMR][1000 genomes]
rs12538152	0.80[EUR][1000 genomes]
rs12538350	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12539202	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12539604	0.81[AMR][1000 genomes]
rs12540025	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12540695	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs2901442	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35448884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717335	0.81[AMR][1000 genomes]
rs4718438	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs62464960	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62464964	0.88[EUR][1000 genomes]
rs62464966	0.85[EUR][1000 genomes]
rs62464967	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62464968	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62466582	0.87[AMR][1000 genomes]
rs62466584	0.87[AMR][1000 genomes]
rs62466586	0.87[AMR][1000 genomes]
rs62466588	0.87[AMR][1000 genomes]
rs62466589	0.87[AMR][1000 genomes]
rs62466591	0.81[AMR][1000 genomes]
rs62466592	0.81[AMR][1000 genomes]
rs62466594	0.81[AMR][1000 genomes]
rs62466596	0.81[AMR][1000 genomes]
rs62466612	0.80[EUR][1000 genomes]
rs62466613	0.80[EUR][1000 genomes]
rs62466616	0.80[EUR][1000 genomes]
rs62466629	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62466630	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62466632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62466639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62466642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62468365	0.83[ASN][1000 genomes]
rs62468371	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62468374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62468375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62468378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62468380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62468385	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62468386	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62468402	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62468403	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4718450	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66483400-66551200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:66487000-66576600	Weak transcription	Gastric	stomach
3	chr7:66495200-66538000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:66495200-66539400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:66495200-66597200	Weak transcription	Right Ventricle	heart
6	chr7:66495600-66547400	Weak transcription	Pancreas	Pancrea
7	chr7:66498600-66549400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:66501000-66540000	Weak transcription	Psoas Muscle	Psoas
9	chr7:66502400-66549600	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:66508800-66537600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:66508800-66538000	Weak transcription	A549	lung
12	chr7:66508800-66590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:66509000-66538000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:66509000-66539600	Weak transcription	HMEC	breast
15	chr7:66509400-66536600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:66511200-66537600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:66511400-66539800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:66512400-66540600	Weak transcription	HepG2	liver
19	chr7:66515600-66537600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:66515600-66538000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:66516400-66551600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:66516800-66540200	Weak transcription	Fetal Brain Female	brain
23	chr7:66518400-66574200	Weak transcription	Small Intestine	intestine
24	chr7:66519200-66539800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:66519600-66543400	Weak transcription	Fetal Brain Male	brain
26	chr7:66521800-66538000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:66523400-66541000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:66523600-66541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:66526400-66585600	Weak transcription	Brain Angular Gyrus	brain
30	chr7:66527000-66540600	Weak transcription	HUVEC	blood vessel
31	chr7:66527600-66539600	Weak transcription	NHEK	skin
32	chr7:66528000-66537800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:66528800-66536600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:66529400-66542400	Weak transcription	Brain Anterior Caudate	brain
35	chr7:66529800-66538200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:66530000-66540800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:66530400-66538000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:66531400-66536000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:66531800-66536000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:66531800-66536000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:66531800-66537600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:66532200-66535800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:66532400-66537400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:66532400-66538000	Weak transcription	NH-A	brain
45	chr7:66532400-66567400	Weak transcription	NHDF-Ad	bronchial
46	chr7:66532400-66587600	Weak transcription	Fetal Kidney	kidney
47	chr7:66532600-66582800	Weak transcription	HSMMtube	muscle
48	chr7:66532800-66535800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:66532800-66537600	Weak transcription	Liver	Liver
50	chr7:66532800-66570200	Weak transcription	Osteobl	bone

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