Variant report

Variant	rs13129156
Chromosome Location	chr4:57981557-57981558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10004910	0.83[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11133482	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11133483	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11133484	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13108835	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13124681	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13147020	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4075349	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6554428	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6825609	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7661524	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7670481	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7681360	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9993153	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13129156	IGFBP7	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57977600-57985000	Weak transcription	Brain Angular Gyrus	brain
2	chr4:57977600-57985000	Weak transcription	A549	lung
3	chr4:57977600-57985200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:57977800-57983200	Weak transcription	Adipose Nuclei	Adipose
5	chr4:57977800-57984200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:57977800-57984200	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:57977800-57985000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:57978000-57981600	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:57978000-57984200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:57978000-57984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:57978800-57984000	Weak transcription	Left Ventricle	heart
12	chr4:57978800-57984000	Weak transcription	Right Atrium	heart
13	chr4:57978800-57984800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:57978800-57985200	Weak transcription	Ovary	ovary
15	chr4:57978800-57985800	Weak transcription	Lung	lung
16	chr4:57979000-57984600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:57979000-57985200	Weak transcription	Aorta	Aorta
18	chr4:57979200-57982200	Weak transcription	Fetal Lung	lung
19	chr4:57979200-57984400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:57979200-57985000	Weak transcription	NHEK	skin
21	chr4:57979200-57985200	Weak transcription	Fetal Kidney	kidney
22	chr4:57979400-57983600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:57979600-57983800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:57979800-57982600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:57980000-57982000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:57980000-57982000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:57980200-57981600	Enhancers	NH-A	brain
28	chr4:57980200-57985000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:57980400-57984800	Weak transcription	Brain Substantia Nigra	brain
30	chr4:57980400-57985000	Weak transcription	Brain Anterior Caudate	brain
31	chr4:57980600-57981600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:57980600-57985000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:57980800-57981600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:57980800-57981600	Enhancers	Osteobl	bone
35	chr4:57980800-57981800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:57980800-57982200	Enhancers	Hela-S3	cervix
37	chr4:57980800-57984800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:57981000-57981600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:57981000-57981600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:57981000-57981600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:57981000-57981600	Enhancers	HSMM	muscle
42	chr4:57981000-57981600	Enhancers	NHDF-Ad	bronchial
43	chr4:57981000-57981600	Enhancers	NHLF	lung
44	chr4:57981000-57981800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:57981000-57981800	Enhancers	HMEC	breast
46	chr4:57981000-57981800	Enhancers	HSMMtube	muscle
47	chr4:57981000-57981800	Enhancers	HUVEC	blood vessel
48	chr4:57981200-57981600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:57981200-57981600	Enhancers	Fetal Heart	heart
50	chr4:57981200-57982800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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