Variant report

Variant	rs388467
Chromosome Location	chr2:40411858-40411859
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs105287	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs106706	0.93[ASN][1000 genomes]
rs12993486	0.93[ASN][1000 genomes]
rs1641454	0.81[ASN][1000 genomes]
rs1651354	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17025367	0.93[ASN][1000 genomes]
rs17025372	0.93[ASN][1000 genomes]
rs17025380	0.93[ASN][1000 genomes]
rs2072529	0.91[ASN][1000 genomes]
rs2072530	0.87[ASN][1000 genomes]
rs2270327	0.92[ASN][1000 genomes]
rs2540904	0.81[ASN][1000 genomes]
rs367596	0.81[ASN][1000 genomes]
rs368577	0.86[ASN][1000 genomes]
rs368613	0.86[ASN][1000 genomes]
rs371492	0.81[ASN][1000 genomes]
rs372072	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs373273	0.83[ASN][1000 genomes]
rs376303	0.82[ASN][1000 genomes]
rs376535	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs379804	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs381610	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs385341	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs385665	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs392953	0.82[ASN][1000 genomes]
rs395755	0.84[ASN][1000 genomes]
rs395987	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs398006	0.87[ASN][1000 genomes]
rs398898	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs402777	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs404005	0.93[ASN][1000 genomes]
rs404226	0.81[ASN][1000 genomes]
rs405804	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs407148	0.81[ASN][1000 genomes]
rs408263	0.84[ASN][1000 genomes]
rs409522	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs410912	0.96[ASN][1000 genomes]
rs419125	0.83[ASN][1000 genomes]
rs433572	0.86[ASN][1000 genomes]
rs446538	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs447136	0.82[ASN][1000 genomes]
rs449383	0.86[ASN][1000 genomes]
rs450450	0.85[ASN][1000 genomes]
rs473400	0.85[ASN][1000 genomes]
rs481800	0.83[ASN][1000 genomes]
rs530048	0.82[ASN][1000 genomes]
rs62148799	0.83[ASN][1000 genomes]
rs6706969	0.81[ASN][1000 genomes]
rs671010	0.85[ASN][1000 genomes]
rs72792740	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40392000-40413200	Weak transcription	Fetal Brain Female	brain
2	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
3	chr2:40393600-40416800	Weak transcription	Fetal Stomach	stomach
4	chr2:40400600-40426800	Weak transcription	Osteobl	bone
5	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:40405600-40421800	Weak transcription	Right Ventricle	heart
7	chr2:40406400-40416600	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:40406600-40416800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:40407200-40419800	Weak transcription	HSMM	muscle
10	chr2:40408800-40412200	Enhancers	Fetal Heart	heart
11	chr2:40409200-40414600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:40410600-40412000	Enhancers	Left Ventricle	heart
13	chr2:40411000-40424200	Weak transcription	HSMMtube	muscle

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