Variant report

Variant	rs13125695
Chromosome Location	chr4:120045269-120045270
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10010982	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10011203	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10022764	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10033187	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10518310	0.80[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1459059	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1459060	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1459061	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1459062	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1809262	0.95[ASN][1000 genomes]
rs2168987	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389727	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389728	0.85[CEU][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34183945	0.83[ASN][1000 genomes]
rs4834746	0.82[AMR][1000 genomes]
rs4834750	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4834751	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534125	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534126	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534127	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534128	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68066537	0.84[ASN][1000 genomes]
rs6817570	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718280	0.82[ASN][1000 genomes]
rs7669449	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7669518	0.82[AMR][1000 genomes]
rs898170	0.98[ASN][1000 genomes]
rs9307468	0.88[EUR][1000 genomes];0.97[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	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	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120037000-120046600	Weak transcription	Right Ventricle	heart
2	chr4:120038800-120045600	Weak transcription	Adipose Nuclei	Adipose
3	chr4:120040000-120045400	Weak transcription	Osteobl	bone
4	chr4:120040600-120045800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:120041200-120052600	Weak transcription	Left Ventricle	heart
6	chr4:120043400-120045800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:120044400-120045400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:120044400-120045800	Enhancers	HSMM	muscle
9	chr4:120044600-120045800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:120044600-120045800	Enhancers	HSMMtube	muscle
11	chr4:120044800-120045400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:120044800-120045400	Enhancers	NHLF	lung
13	chr4:120044800-120045600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:120044800-120045800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:120044800-120045800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:120044800-120046000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:120044800-120046000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:120044800-120046000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:120044800-120046000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:120044800-120046000	Enhancers	Brain Hippocampus Middle	brain
21	chr4:120044800-120046200	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:120044800-120046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:120045000-120045400	Enhancers	Fetal Heart	heart
24	chr4:120045000-120045600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:120045000-120045600	Flanking Active TSS	HUVEC	blood vessel
26	chr4:120045000-120045600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:120045000-120045800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:120045000-120045800	Enhancers	NHDF-Ad	bronchial
29	chr4:120045000-120046200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:120045000-120047800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:120045200-120045800	Enhancers	Hela-S3	cervix
32	chr4:120045200-120046000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:120045200-120046000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:120045200-120059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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