Variant report

Variant	rs1375518
Chromosome Location	chr3:54390018-54390019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17053898	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs17053916	1.00[AMR][1000 genomes]
rs17053918	1.00[AMR][1000 genomes]
rs17053949	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17053977	0.82[CHB][hapmap]
rs17054024	0.82[CHB][hapmap]
rs2359787	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2359791	1.00[AMR][1000 genomes]
rs2884798	1.00[AMR][1000 genomes]
rs56741949	1.00[AMR][1000 genomes]
rs57538371	1.00[AMR][1000 genomes]
rs57766380	1.00[AMR][1000 genomes]
rs58288863	1.00[AMR][1000 genomes]
rs58521503	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58840083	1.00[AMR][1000 genomes]
rs60022864	0.86[ASN][1000 genomes]
rs60123141	0.93[ASN][1000 genomes]
rs61230886	1.00[AMR][1000 genomes]
rs61282991	1.00[ASN][1000 genomes]
rs61357313	1.00[ASN][1000 genomes]
rs6414574	1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6772902	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs73841933	1.00[AMR][1000 genomes]
rs73841992	1.00[AMR][1000 genomes]
rs73841993	1.00[AMR][1000 genomes]
rs73841994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73841995	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841996	1.00[AMR][1000 genomes]
rs7627851	1.00[AMR][1000 genomes]
rs7637759	1.00[AMR][1000 genomes]
rs9816771	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv817210	chr3:54365684-54511164	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54380000-54391200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:54383400-54392600	Weak transcription	Right Ventricle	heart
3	chr3:54384000-54392400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:54387200-54392000	Enhancers	Fetal Lung	lung
5	chr3:54387200-54392600	Enhancers	Ovary	ovary
6	chr3:54387200-54394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:54387400-54390200	Enhancers	Left Ventricle	heart
8	chr3:54387400-54391800	Enhancers	Fetal Brain Male	brain
9	chr3:54387400-54392000	Enhancers	Adipose Nuclei	Adipose
10	chr3:54387600-54394800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:54387600-54394800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr3:54387600-54396200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:54387800-54393800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:54388000-54390200	Weak transcription	Fetal Brain Female	brain
15	chr3:54388200-54391800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:54388800-54391200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:54388800-54395400	Enhancers	Hela-S3	cervix
18	chr3:54389000-54391200	Enhancers	Psoas Muscle	Psoas
19	chr3:54389200-54390400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:54389200-54390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:54389200-54392000	Enhancers	Right Atrium	heart
22	chr3:54389400-54390400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:54389400-54390400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:54389400-54393600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:54389600-54390400	Weak transcription	Aorta	Aorta
26	chr3:54389600-54390400	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:54389600-54390400	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:54389600-54391400	Enhancers	Liver	Liver
29	chr3:54389800-54390800	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:54389800-54391200	Enhancers	Brain Anterior Caudate	brain
31	chr3:54389800-54391200	Enhancers	Fetal Stomach	stomach
32	chr3:54389800-54391800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:54390000-54391000	Weak transcription	Brain Substantia Nigra	brain
34	chr3:54390000-54393400	Weak transcription	Spleen	Spleen
35	chr3:54390000-54394400	Weak transcription	Esophagus	oesophagus

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