Variant report

Variant	rs16823487
Chromosome Location	chr2:144858086-144858087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12613814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12614766	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619798	0.81[CHB][hapmap]
rs1427310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16823361	0.89[CHB][hapmap]
rs16823373	0.81[CHB][hapmap]
rs16823382	0.90[CHB][hapmap]
rs16823481	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1864245	0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs2111671	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs28544584	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3755088	0.81[CHB][hapmap]
rs3820756	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs55716423	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55883773	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56395361	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58738282	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59687135	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72852992	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72852993	0.90[ASN][1000 genomes]
rs72852998	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72852999	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72853001	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72854106	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72854129	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72854165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72854176	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72854193	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72854200	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72855507	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72855511	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7608953	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678811	0.81[CHB][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144848000-144861600	Weak transcription	Ovary	ovary
2	chr2:144853000-144862200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:144854400-144862000	Weak transcription	Right Ventricle	heart
4	chr2:144854400-144862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:144855800-144864800	Weak transcription	Right Atrium	heart
6	chr2:144856000-144860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:144856400-144858200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:144856400-144858400	Enhancers	HMEC	breast
9	chr2:144856600-144858200	Enhancers	Fetal Heart	heart
10	chr2:144856600-144858400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:144856800-144858400	Enhancers	HUVEC	blood vessel
12	chr2:144856800-144858400	Enhancers	NHEK	skin
13	chr2:144857000-144858200	Enhancers	Hela-S3	cervix
14	chr2:144857000-144858200	Enhancers	HSMM	muscle
15	chr2:144857000-144858400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:144857000-144858400	Enhancers	A549	lung
17	chr2:144857000-144858400	Enhancers	HSMMtube	muscle
18	chr2:144857000-144858400	Enhancers	NHLF	lung
19	chr2:144857200-144858200	Enhancers	Osteobl	bone
20	chr2:144857200-144861600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:144857600-144858200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:144857600-144858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:144857800-144858200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:144857800-144858400	Enhancers	NH-A	brain
25	chr2:144857800-144860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:144857800-144868600	Weak transcription	K562	blood
27	chr2:144858000-144859400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:144858000-144861800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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