Variant report

Variant	rs2164549
Chromosome Location	chr3:78769137-78769138
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10865570	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11708898	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11714414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11927671	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2043662	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2118067	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255164	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2608023	1.00[CEU][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2684377	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28429251	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6769521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6785152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7619742	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7631285	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs967454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9834909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9837496	1.00[CEU][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.93[EUR][1000 genomes]
rs984138	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9842948	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9856624	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9864412	0.96[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9875094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][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	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv1842222	chr3:78744206-78778901	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:78733800-78778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:78740400-78773800	Weak transcription	Brain Germinal Matrix	brain
3	chr3:78747000-78777400	Weak transcription	Fetal Heart	heart
4	chr3:78752200-78773600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:78752600-78771000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:78753600-78777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:78754000-78772200	Weak transcription	Brain Substantia Nigra	brain
8	chr3:78756200-78773800	Weak transcription	Fetal Kidney	kidney
9	chr3:78756800-78777800	Weak transcription	Osteobl	bone
10	chr3:78757000-78771000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:78757200-78773800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:78757200-78775000	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:78761200-78777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:78761400-78777400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:78761400-78777600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:78762600-78772800	Weak transcription	Brain Anterior Caudate	brain
17	chr3:78762800-78774000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:78763000-78772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:78763600-78773800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:78764200-78771000	Weak transcription	Fetal Lung	lung
21	chr3:78764200-78777400	Weak transcription	Brain Angular Gyrus	brain
22	chr3:78765800-78778000	Weak transcription	HMEC	breast
23	chr3:78766200-78773200	Weak transcription	Primary T cells from cord blood	blood
24	chr3:78766400-78769400	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:78766400-78771600	Weak transcription	HepG2	liver
26	chr3:78766400-78772200	Weak transcription	Fetal Stomach	stomach
27	chr3:78766400-78774000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:78766400-78777400	Weak transcription	Adipose Nuclei	Adipose
29	chr3:78766400-78778000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:78766400-78778000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:78766600-78769600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:78766600-78770400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:78766600-78770600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:78766600-78773600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:78766600-78773800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:78766600-78773800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:78766600-78773800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:78766600-78774200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:78766600-78774200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:78766600-78778000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:78766600-78778000	Weak transcription	Ovary	ovary
42	chr3:78766600-78783000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:78766800-78771000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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