Variant report

Variant	rs7429509
Chromosome Location	chr3:151101167-151101168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13070270	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276766	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732768	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3732769	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55667597	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440740	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6778082	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6798347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9289836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7429509	MBNL1	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151064600-151112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:151065600-151109400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:151065600-151115200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:151069400-151129800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:151075600-151136400	Weak transcription	Fetal Brain Female	brain
6	chr3:151075800-151101200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:151075800-151101400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:151079800-151105400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:151080400-151101600	Weak transcription	Brain Anterior Caudate	brain
10	chr3:151080400-151105400	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:151083000-151110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:151084400-151101600	Weak transcription	Brain Angular Gyrus	brain
13	chr3:151084400-151109200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:151086200-151102400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:151087600-151116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:151088400-151101400	Weak transcription	Brain Substantia Nigra	brain
17	chr3:151090200-151142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:151091600-151105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:151095400-151105800	Weak transcription	Fetal Thymus	thymus
20	chr3:151095400-151111000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:151095800-151102000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:151096000-151129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:151096600-151112400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:151097800-151107800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:151097800-151108800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:151098200-151101600	Weak transcription	Fetal Kidney	kidney
27	chr3:151098600-151101600	Weak transcription	Brain Germinal Matrix	brain
28	chr3:151098800-151143400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:151099000-151103600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:151099200-151102800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:151099400-151105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:151099400-151107600	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:151099400-151109000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:151099600-151101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:151099600-151101600	Enhancers	Primary B cells from cord blood	blood
36	chr3:151099600-151107600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:151099800-151101800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:151099800-151101800	Enhancers	Fetal Intestine Small	intestine
39	chr3:151099800-151103000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:151099800-151103400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr3:151099800-151107800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr3:151100000-151101600	Weak transcription	NHLF	lung
43	chr3:151100000-151102000	Enhancers	Primary hematopoietic stem cells	blood
44	chr3:151100000-151102600	Enhancers	Fetal Intestine Large	intestine
45	chr3:151100200-151103000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr3:151100400-151101200	Enhancers	Stomach Mucosa	stomach
47	chr3:151100400-151101600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:151100400-151101600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:151100600-151102000	Strong transcription	Placenta	Placenta
50	chr3:151100600-151102000	Enhancers	Sigmoid Colon	Sigmoid Colon

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