Variant report

Variant	rs747462
Chromosome Location	chr2:233790171-233790172
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233790048..233791601-chr2:233794420..233796079,2	K562	blood:
2	chr2:233757939..233760469-chr2:233789148..233791862,2	K562	blood:
3	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
4	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1083514	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1083515	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1083517	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1083518	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1083519	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1083520	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1083521	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11675082	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878289	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004202	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004203	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592118	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2592127	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675960	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880986	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2944590	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73102769	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs747463	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778353	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs895435	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1014548	chr2:233777859-233816018	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs747462	NGEF	cis	Esophagus Mucosa	GTEx
rs747462	NGEF	cis	Adipose Subcutaneous	GTEx
rs747462	NGEF	cis	Artery Aorta	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233767200-233790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:233781800-233791800	Weak transcription	Pancreas	Pancrea
3	chr2:233784000-233791400	Strong transcription	Liver	Liver
4	chr2:233785000-233792000	Weak transcription	Gastric	stomach
5	chr2:233789200-233791200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr2:233789200-233791400	Enhancers	Esophagus	oesophagus
7	chr2:233789200-233791600	Strong transcription	HepG2	liver
8	chr2:233789400-233790400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr2:233789400-233790400	Weak transcription	HSMM	muscle
10	chr2:233789400-233791600	Enhancers	HSMMtube	muscle
11	chr2:233789600-233790200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:233789800-233790200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr2:233789800-233790200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr2:233789800-233790200	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:233789800-233790200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
16	chr2:233789800-233791400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr2:233789800-233791600	Active TSS	Brain Anterior Caudate	brain
18	chr2:233789800-233791600	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr2:233789800-233791800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr2:233789800-233791800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:233789800-233792000	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr2:233789800-233792400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:233789800-233793200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:233790000-233790200	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:233790000-233790200	Bivalent Enhancer	Small Intestine	intestine
26	chr2:233790000-233790400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:233790000-233790400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr2:233790000-233790400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr2:233790000-233790400	Bivalent Enhancer	Psoas Muscle	Psoas
30	chr2:233790000-233790600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:233790000-233790800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:233790000-233791600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:233790000-233791600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:233790000-233792000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr2:233790000-233792200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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