Variant report

Variant	rs4718426
Chromosome Location	chr7:66414879-66414880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66408754..66411660-chr7:66414728..66417585,2	K562	blood:
2	chr7:66403915..66405990-chr7:66414278..66417036,2	K562	blood:
3	chr7:66414176..66416648-chr7:66419032..66420913,2	K562	blood:

Variant related genes	Relation type
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12531516	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12532160	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12532307	0.87[EUR][1000 genomes]
rs12532650	0.81[AMR][1000 genomes]
rs12533830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534401	0.85[ASN][1000 genomes]
rs12535268	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12537825	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538126	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12539366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540312	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12540447	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12540695	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17567255	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34758320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717323	0.81[AMR][1000 genomes]
rs4717324	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4717329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4717332	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718434	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62465688	0.87[AMR][1000 genomes]
rs62465698	0.87[AMR][1000 genomes]
rs62465699	0.87[AMR][1000 genomes]
rs62465700	0.81[AMR][1000 genomes]
rs62465701	0.81[AMR][1000 genomes]
rs62465705	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62465706	0.87[AMR][1000 genomes]
rs62465707	0.87[AMR][1000 genomes]
rs62465709	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62465710	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs62465712	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62465713	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62465714	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62465716	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62465730	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62465734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62465736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465742	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62466575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466578	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466582	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466584	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466586	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62466588	0.87[AMR][1000 genomes]
rs62466589	0.87[AMR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4718426	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
3	chr7:66396000-66415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:66398800-66415400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:66400600-66426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:66402400-66424200	Strong transcription	Dnd41	blood
7	chr7:66403000-66424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:66403400-66417000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:66403400-66417200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:66403400-66424400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:66403400-66426000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:66403400-66426400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:66403600-66417200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:66403600-66424600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:66403600-66425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:66403600-66426400	Strong transcription	Thymus	Thymus
17	chr7:66403600-66426600	Strong transcription	Fetal Stomach	stomach
18	chr7:66403800-66417200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:66403800-66418800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66403800-66425200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:66403800-66425800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr7:66404000-66417400	Strong transcription	Lung	lung
23	chr7:66405000-66424600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:66405200-66422800	Strong transcription	Fetal Muscle Leg	muscle
25	chr7:66405400-66417400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:66406000-66426400	Strong transcription	Fetal Thymus	thymus
27	chr7:66406200-66421400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:66406200-66423800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:66406400-66417200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:66406400-66424400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:66406400-66425000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:66406600-66416800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:66406600-66425800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:66406600-66425800	Strong transcription	Liver	Liver
35	chr7:66406600-66425800	Strong transcription	Fetal Brain Female	brain
36	chr7:66406600-66426400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr7:66406800-66416800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:66406800-66417200	Strong transcription	Placenta	Placenta
39	chr7:66406800-66417400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:66406800-66417400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:66406800-66417400	Strong transcription	Spleen	Spleen
42	chr7:66406800-66418400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:66406800-66418600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:66406800-66422400	Strong transcription	Left Ventricle	heart
45	chr7:66406800-66422600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:66406800-66425200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr7:66406800-66425800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:66406800-66425800	Strong transcription	Adipose Nuclei	Adipose
49	chr7:66406800-66426000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:66406800-66426000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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