Variant report

Variant	rs1440227
Chromosome Location	chr4:47832892-47832893
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	chr4:47830463..47833080-chr4:47836939..47838798,2	K562	blood:
2	chr4:47830877..47834399-chr4:47836493..47839965,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145244	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10020447	0.81[CEU][hapmap]
rs10025104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10030927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10049713	0.81[JPT][hapmap]
rs1036681	0.82[CEU][hapmap]
rs1062858	0.80[JPT][hapmap]
rs10938503	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10938506	0.81[JPT][hapmap]
rs12503789	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12504018	0.81[JPT][hapmap]
rs12506632	0.81[JPT][hapmap]
rs12507439	0.85[JPT][hapmap]
rs12651301	0.81[JPT][hapmap]
rs1371730	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1440228	0.81[JPT][hapmap]
rs1507920	0.88[CHB][hapmap]
rs1507922	0.90[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs1550444	0.81[CEU][hapmap]
rs1583808	0.94[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs16860723	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs16860815	0.89[CHB][hapmap]
rs1812964	0.86[CEU][hapmap]
rs1822030	0.80[JPT][hapmap]
rs1866689	0.80[JPT][hapmap]
rs1972883	0.81[CEU][hapmap]
rs2014934	0.82[CEU][hapmap]
rs2033893	0.81[JPT][hapmap]
rs2033895	0.81[CEU][hapmap]
rs2033897	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2033898	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2119207	0.82[CEU][hapmap]
rs2289433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352145	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2352463	0.82[CEU][hapmap]
rs2352466	0.82[CEU][hapmap]
rs321620	0.91[CEU][hapmap];0.94[CHB][hapmap]
rs3762858	0.81[CEU][hapmap]
rs3762859	0.81[CEU][hapmap]
rs3811761	0.82[CEU][hapmap]
rs3845160	0.82[CEU][hapmap]
rs4308343	0.82[CEU][hapmap]
rs4365692	0.81[CEU][hapmap]
rs4529019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4565052	0.81[JPT][hapmap]
rs4694867	0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs4694868	0.81[CEU][hapmap]
rs4694871	0.81[CEU][hapmap]
rs4694872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4695277	0.93[ASN][1000 genomes]
rs4695285	0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs4695286	0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs4695287	0.81[CEU][hapmap]
rs4695290	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695292	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4695296	0.82[CEU][hapmap]
rs4695300	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4695302	0.82[CEU][hapmap]
rs4695303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4695306	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4695307	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs4695308	0.89[ASN][1000 genomes]
rs4695309	0.81[CEU][hapmap]
rs4695312	0.82[CEU][hapmap]
rs57010305	0.90[ASN][1000 genomes]
rs58511183	0.90[ASN][1000 genomes]
rs60427744	0.90[ASN][1000 genomes]
rs60515154	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6414687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6447586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447592	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447599	0.85[CEU][hapmap]
rs6811385	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs6815975	0.82[CEU][hapmap]
rs6816082	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6818556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6822668	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823184	0.81[JPT][hapmap]
rs6823698	0.80[JPT][hapmap]
rs6826190	0.82[CEU][hapmap]
rs6827508	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6829073	0.81[CEU][hapmap]
rs6832334	0.81[CEU][hapmap]
rs6833320	0.81[CEU][hapmap]
rs6844286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6850142	0.81[CEU][hapmap]
rs707723	0.82[CEU][hapmap]
rs73238638	0.92[ASN][1000 genomes]
rs73238639	0.93[ASN][1000 genomes]
rs73244433	0.90[ASN][1000 genomes]
rs73244436	0.91[ASN][1000 genomes]
rs73244437	0.89[ASN][1000 genomes]
rs73244438	0.90[ASN][1000 genomes]
rs73244439	0.90[ASN][1000 genomes]
rs73244442	0.86[ASN][1000 genomes]
rs7663935	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7668778	0.82[CEU][hapmap]
rs7670219	0.80[CEU][hapmap]
rs7672090	0.86[CEU][hapmap]
rs7687363	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690562	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8180146	0.80[JPT][hapmap]
rs893863	0.82[CEU][hapmap]
rs893864	0.81[CEU][hapmap]
rs920462	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920463	0.82[CEU][hapmap]
rs9291317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9683791	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
8	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
10	nsv829924	chr4:47670905-47866665	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv4328	chr4:47816467-47862253	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1440227	CNGA1	cis	Thyroid	GTEx
rs1440227	CNGA1	cis	Heart Left Ventricle	GTEx
rs1440227	CNGA1	cis	Muscle Skeletal	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47826000-47838600	Weak transcription	Pancreas	Pancrea
2	chr4:47826600-47833200	Weak transcription	Right Atrium	heart
3	chr4:47830600-47837200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:47830800-47833200	Weak transcription	Esophagus	oesophagus
5	chr4:47831800-47833000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:47831800-47833400	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:47832000-47833600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:47832000-47833800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:47832200-47833400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:47832400-47833200	Enhancers	Primary T cells from cord blood	blood
11	chr4:47832400-47834200	Flanking Active TSS	Fetal Heart	heart
12	chr4:47832400-47837400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:47832800-47833400	Enhancers	Psoas Muscle	Psoas
14	chr4:47832800-47833600	Enhancers	Left Ventricle	heart
15	chr4:47832800-47834000	Enhancers	Placenta Amnion	Placenta Amnion

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