Variant report

Variant	rs7428575
Chromosome Location	chr3:151074623-151074624
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10513391	0.82[CEU][hapmap]
rs10935831	0.83[CEU][hapmap]
rs10935832	0.87[CEU][hapmap]
rs10935833	0.83[CEU][hapmap]
rs10935835	0.87[CEU][hapmap]
rs10935839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11925037	0.87[CEU][hapmap]
rs11926145	0.87[CEU][hapmap]
rs12107539	0.87[CEU][hapmap]
rs12485537	0.80[AMR][1000 genomes]
rs12497019	0.87[CEU][hapmap]
rs12497330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12637988	0.87[CEU][hapmap]
rs13095610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16863287	0.82[CEU][hapmap]
rs2307020	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35786948	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3732759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732760	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3773621	0.87[CEU][hapmap]
rs4680307	0.87[CEU][hapmap]
rs4680356	0.87[CEU][hapmap]
rs6440737	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6440738	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6767192	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6784934	0.87[CEU][hapmap]
rs6785930	0.87[CEU][hapmap]
rs6790448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6793898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6801155	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6801273	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6804769	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6808091	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7641645	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7644001	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7648875	0.87[CEU][hapmap];0.80[EUR][1000 genomes]

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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151063800-151099800	Weak transcription	Fetal Intestine Small	intestine
2	chr3:151064400-151089200	Weak transcription	NHLF	lung
3	chr3:151064600-151075200	Weak transcription	Adipose Nuclei	Adipose
4	chr3:151064600-151112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:151065400-151079600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:151065600-151109400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:151065600-151115200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:151065800-151082200	Weak transcription	Fetal Thymus	thymus
9	chr3:151066000-151074800	Weak transcription	Brain Anterior Caudate	brain
10	chr3:151066400-151075000	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:151067800-151083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:151068000-151075000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:151068000-151078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:151068000-151079600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:151068000-151082600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:151068400-151075000	Weak transcription	Aorta	Aorta
17	chr3:151069200-151078800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:151069200-151078800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:151069400-151129800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:151070400-151082800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:151070600-151075000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:151070800-151075000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:151072400-151080200	Weak transcription	Placenta	Placenta
24	chr3:151072400-151089800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:151072400-151091400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:151072600-151099800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:151072800-151075000	Weak transcription	Fetal Brain Female	brain
28	chr3:151073600-151075800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:151073600-151076200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr3:151073800-151074800	Weak transcription	Brain Angular Gyrus	brain
31	chr3:151074200-151075800	Enhancers	Dnd41	blood
32	chr3:151074200-151082800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:151074200-151083800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:151074200-151084000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:151074400-151075000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:151074400-151075400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr3:151074400-151076000	Enhancers	Primary B cells from cord blood	blood
38	chr3:151074600-151075000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:151074600-151075000	Enhancers	Osteobl	bone
40	chr3:151074600-151075600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:151074600-151075600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:151074600-151076000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:151074600-151078200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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