Variant report

Variant	rs4580429
Chromosome Location	chr2:46891454-46891455
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46883898..46887037-chr2:46888701..46892071,3	K562	blood:
2	chr2:46886567..46889268-chr2:46889432..46892855,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10495935	1.00[CEU][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1456014	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17035465	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17035488	1.00[CEU][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17035489	1.00[CEU][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17035491	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17035492	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17035501	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17035506	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17035507	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17769101	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1963249	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34967479	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41444244	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4953409	0.85[ASN][1000 genomes]
rs4953410	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55864937	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56193071	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58569862	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59778644	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61588471	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62136927	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62136929	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62136930	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62136931	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62136933	0.84[ASN][1000 genomes]
rs6742593	0.87[ASN][1000 genomes]
rs67716382	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7587863	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
7	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr2:46884400-46896400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:46884800-46892600	Weak transcription	A549	lung
3	chr2:46885200-46893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:46888800-46891600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:46889000-46896800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:46889200-46896400	Enhancers	Colon Smooth Muscle	Colon
7	chr2:46889400-46891600	Enhancers	Ovary	ovary
8	chr2:46889400-46891800	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr2:46889600-46891800	Enhancers	Fetal Heart	heart
10	chr2:46889600-46891800	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:46889600-46898200	Enhancers	Fetal Stomach	stomach
12	chr2:46889800-46891800	Enhancers	Left Ventricle	heart
13	chr2:46890000-46891600	Enhancers	Right Atrium	heart
14	chr2:46890200-46892400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:46890200-46893200	Weak transcription	Fetal Kidney	kidney
16	chr2:46890200-46896400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:46890400-46892000	Weak transcription	Fetal Lung	lung
18	chr2:46890400-46894400	Weak transcription	Aorta	Aorta
19	chr2:46890400-46897000	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:46890600-46891800	Enhancers	Right Ventricle	heart
21	chr2:46890600-46892800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:46890800-46893000	Weak transcription	NHDF-Ad	bronchial
23	chr2:46891000-46891600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:46891000-46891600	Enhancers	Pancreas	Pancrea
25	chr2:46891200-46895800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:46891200-46896400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:46891200-46896600	Weak transcription	HSMMtube	muscle
28	chr2:46891400-46892000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:46891400-46893400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:46891400-46898400	Weak transcription	Psoas Muscle	Psoas

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