Variant report

Variant	rs2253534
Chromosome Location	chr4:120605031-120605032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10007021	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10012609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013319	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10015250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10024373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11929853	1.00[EUR][1000 genomes]
rs11944683	1.00[EUR][1000 genomes]
rs11947667	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643785	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12646486	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12648324	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12648560	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12711079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13106925	0.82[JPT][hapmap]
rs13108160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13121100	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13132106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13137327	1.00[ASN][1000 genomes]
rs17005622	1.00[EUR][1000 genomes]
rs17005818	1.00[EUR][1000 genomes]
rs17005819	1.00[EUR][1000 genomes]
rs17051362	1.00[EUR][1000 genomes]
rs17051363	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17292047	1.00[CHD][hapmap];0.85[JPT][hapmap]
rs17358524	1.00[CHD][hapmap];0.85[JPT][hapmap]
rs17839126	1.00[EUR][1000 genomes]
rs2252946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253404	0.98[AFR][1000 genomes]
rs2389868	1.00[JPT][hapmap]
rs2389870	1.00[CHD][hapmap]
rs2389893	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2389894	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389895	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2389896	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389897	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583607	1.00[EUR][1000 genomes]
rs2583613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583614	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2714962	0.98[AFR][1000 genomes]
rs2714974	1.00[EUR][1000 genomes]
rs2714982	1.00[EUR][1000 genomes]
rs2714983	1.00[EUR][1000 genomes]
rs2714986	1.00[EUR][1000 genomes]
rs2715017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2715024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715025	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892872	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36100748	1.00[EUR][1000 genomes]
rs3756155	0.85[JPT][hapmap]
rs3775846	0.82[JPT][hapmap]
rs3775856	1.00[JPT][hapmap]
rs4146267	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4450908	1.00[EUR][1000 genomes]
rs4834790	0.85[JPT][hapmap]
rs4834796	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4834801	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5026501	0.95[AFR][1000 genomes]
rs58797432	1.00[EUR][1000 genomes]
rs59755197	1.00[EUR][1000 genomes]
rs6817975	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6820878	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821083	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843408	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844603	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6844952	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7441168	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1010638	chr4:120586178-120671835	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1009771	chr4:120590902-120665812	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3467357	chr4:120600110-120606689	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3467358	chr4:120600110-120606689	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv822711	chr4:120600253-120606566	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv1826347	chr4:120604860-120609268	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv441910	chr4:120604860-120609268	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120599800-120605400	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:120601400-120606600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:120602600-120605400	Enhancers	Colon Smooth Muscle	Colon
4	chr4:120602800-120605200	Enhancers	Fetal Stomach	stomach
5	chr4:120602800-120606400	Enhancers	Fetal Lung	lung
6	chr4:120603200-120605200	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr4:120603400-120606000	Enhancers	Osteobl	bone
8	chr4:120604200-120605200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:120604400-120605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:120604400-120606200	Enhancers	Liver	Liver
11	chr4:120604400-120606400	Enhancers	NHLF	lung
12	chr4:120604800-120605200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:120604800-120605200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:120604800-120605200	Enhancers	Stomach Smooth Muscle	stomach
15	chr4:120604800-120605400	Enhancers	NH-A	brain
16	chr4:120604800-120605400	Enhancers	NHDF-Ad	bronchial
17	chr4:120605000-120605200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:120605000-120605200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:120605000-120605200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:120605000-120605800	Enhancers	Aorta	Aorta
21	chr4:120605000-120606000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:120605000-120606600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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