Variant report

Variant	rs62467436
Chromosome Location	chr7:65549836-65549837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65547913..65550184-chr7:65555557..65557762,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12530898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531358	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532327	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536292	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537407	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12538025	0.85[AMR][1000 genomes]
rs62465474	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62465475	0.85[AMR][1000 genomes]
rs62465476	0.81[ASN][1000 genomes]
rs62465484	0.83[ASN][1000 genomes]
rs62465512	0.85[AMR][1000 genomes]
rs62465513	0.85[AMR][1000 genomes]
rs62465515	0.85[AMR][1000 genomes]
rs62467421	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62467437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62467441	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62467442	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62467444	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62467450	1.00[AMR][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv984546	chr7:65531382-65556631	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62467436	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65541600-65565000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:65541800-65551000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:65541800-65554200	Weak transcription	HSMMtube	muscle
4	chr7:65541800-65556800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:65541800-65564600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:65541800-65564600	Weak transcription	Fetal Brain Female	brain
7	chr7:65541800-65564800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:65542000-65550800	Weak transcription	Brain Germinal Matrix	brain
9	chr7:65542000-65552000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:65542000-65553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:65542000-65553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:65542000-65554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:65542000-65559600	Weak transcription	Psoas Muscle	Psoas
14	chr7:65542000-65564600	Weak transcription	Primary B cells from cord blood	blood
15	chr7:65542000-65564800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:65542000-65564800	Weak transcription	Aorta	Aorta
17	chr7:65542000-65564800	Weak transcription	HSMM	muscle
18	chr7:65542200-65550200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:65542200-65551200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:65542200-65551800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:65542200-65552000	Weak transcription	HUVEC	blood vessel
22	chr7:65542200-65556000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:65542200-65564600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:65542200-65564600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:65542200-65564600	Weak transcription	Brain Angular Gyrus	brain
26	chr7:65542200-65564600	Weak transcription	Fetal Kidney	kidney
27	chr7:65542200-65564600	Weak transcription	NH-A	brain
28	chr7:65542200-65564800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:65542400-65556200	Weak transcription	Osteobl	bone
30	chr7:65542400-65564400	Weak transcription	Hela-S3	cervix
31	chr7:65542800-65560600	Strong transcription	Fetal Stomach	stomach
32	chr7:65543000-65551800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:65543000-65564600	Weak transcription	NHDF-Ad	bronchial
34	chr7:65543200-65551000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:65543200-65554600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:65543200-65564400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:65543400-65551400	Weak transcription	Placenta	Placenta
38	chr7:65543400-65558600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:65543400-65558600	Weak transcription	Small Intestine	intestine
40	chr7:65543400-65559200	Strong transcription	Fetal Intestine Large	intestine
41	chr7:65543600-65561400	Strong transcription	Fetal Intestine Small	intestine
42	chr7:65544000-65553000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:65544200-65554000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:65544400-65551600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:65545600-65553200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr7:65545600-65554800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:65545600-65558200	Strong transcription	Lung	lung
48	chr7:65545800-65554400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:65546000-65552800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr7:65546000-65555400	Strong transcription	Primary monocytes fromperipheralblood	blood

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