Variant report

Variant	rs1429098
Chromosome Location	chr2:144889825-144889826
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10173322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs10197599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs10439175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs10439191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12615549	0.87[TSI][hapmap]
rs13406608	1.00[EUR][1000 genomes]
rs13406634	0.95[EUR][1000 genomes]
rs13411437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs13415860	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs13416245	1.00[EUR][1000 genomes]
rs1344628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs1429096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465366	0.87[TSI][hapmap]
rs16823379	0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16823411	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16823476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16823541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs16848271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16855315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2303544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs28420848	1.00[EUR][1000 genomes]
rs28479091	1.00[EUR][1000 genomes]
rs28705915	1.00[EUR][1000 genomes]
rs3806478	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3806479	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3806480	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4662361	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4662362	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4662363	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4662368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs4662369	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs55681388	0.91[EUR][1000 genomes]
rs55766236	1.00[EUR][1000 genomes]
rs55803436	1.00[EUR][1000 genomes]
rs55922892	1.00[EUR][1000 genomes]
rs56048525	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56181240	1.00[EUR][1000 genomes]
rs56203039	1.00[EUR][1000 genomes]
rs56271766	1.00[EUR][1000 genomes]
rs56302598	0.84[EUR][1000 genomes]
rs56317913	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56361359	1.00[EUR][1000 genomes]
rs6707579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs6726343	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73008247	0.95[EUR][1000 genomes]
rs73964929	0.95[EUR][1000 genomes]
rs7563626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs959766	0.87[TSI][hapmap]
rs959767	0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144869400-144899000	Weak transcription	Aorta	Aorta
2	chr2:144870200-144895200	Weak transcription	HSMMtube	muscle
3	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
4	chr2:144870600-144891400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
7	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
8	chr2:144872200-144895200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:144873600-144901400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:144873600-144901400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:144873800-144901800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:144874400-144897000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:144874800-144891200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
15	chr2:144877200-144895000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:144877200-144895600	Weak transcription	Pancreas	Pancrea
17	chr2:144877200-144903200	Weak transcription	Ovary	ovary
18	chr2:144877400-144891400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:144881200-144895200	Weak transcription	HSMM	muscle
20	chr2:144883200-144891200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:144883200-144908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:144883600-144893200	Weak transcription	Primary B cells from cord blood	blood
23	chr2:144887600-144890600	Enhancers	NHLF	lung
24	chr2:144888200-144890400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:144888200-144890600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:144888200-144890600	Enhancers	NHDF-Ad	bronchial
27	chr2:144888200-144890800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:144889000-144891400	Weak transcription	K562	blood
29	chr2:144889600-144890200	Enhancers	NHEK	skin
30	chr2:144889600-144895400	Weak transcription	NH-A	brain

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