Variant report

Variant	rs2399438
Chromosome Location	chr3:112608594-112608595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11928072	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12631307	0.99[ASN][1000 genomes]
rs12634138	0.81[ASN][1000 genomes]
rs12634629	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1919015	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2399439	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2399440	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4682121	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682123	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682124	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4682439	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4682446	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66732921	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66948543	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67184855	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67562655	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6781132	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6802964	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950393	0.99[ASN][1000 genomes]
rs72950395	0.99[ASN][1000 genomes]
rs73225776	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73227704	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73227765	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7634588	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3501334	chr3:112546820-112648766	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3501335	chr3:112546820-112648766	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112604200-112616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:112607200-112608600	Enhancers	Primary B cells from cord blood	blood
3	chr3:112607200-112608800	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:112607200-112608800	Enhancers	HSMMtube	muscle
5	chr3:112607400-112609000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:112607400-112609000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:112607600-112608800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:112607600-112613000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:112607800-112608800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr3:112607800-112608800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:112607800-112608800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:112607800-112610200	Enhancers	HSMM	muscle
13	chr3:112608000-112608800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:112608000-112608800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:112608000-112608800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:112608000-112608800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:112608200-112608600	Active TSS	Adipose Nuclei	Adipose
18	chr3:112608200-112608800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:112608200-112608800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:112608200-112608800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:112608200-112609000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:112608400-112608600	Enhancers	A549	lung
23	chr3:112608400-112608800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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