Variant report

Variant	rs16823609
Chromosome Location	chr2:145034379-145034380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183920	1.00[EUR][1000 genomes]
rs12328646	1.00[TSI][hapmap]
rs16823477	1.00[TSI][hapmap]
rs16823483	1.00[TSI][hapmap]
rs16823497	1.00[EUR][1000 genomes]
rs16823498	1.00[EUR][1000 genomes]
rs16823501	1.00[EUR][1000 genomes]
rs16823512	1.00[EUR][1000 genomes]
rs16823515	1.00[EUR][1000 genomes]
rs16823517	1.00[EUR][1000 genomes]
rs16823544	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16823571	0.90[MKK][hapmap]
rs16823579	1.00[ASW][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap]
rs16823594	0.93[MKK][hapmap]
rs16823596	0.93[MKK][hapmap]
rs16823598	1.00[MKK][hapmap]
rs16855310	1.00[EUR][1000 genomes]
rs2042997	1.00[EUR][1000 genomes]
rs55830030	1.00[EUR][1000 genomes]
rs6732179	1.00[EUR][1000 genomes]
rs6761553	1.00[MKK][hapmap]
rs72992109	1.00[EUR][1000 genomes]
rs73006286	1.00[EUR][1000 genomes]
rs73006287	1.00[EUR][1000 genomes]
rs73006289	1.00[EUR][1000 genomes]
rs73006290	1.00[EUR][1000 genomes]
rs73008203	1.00[EUR][1000 genomes]
rs73008212	1.00[EUR][1000 genomes]
rs7587100	1.00[EUR][1000 genomes]
rs7595013	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145015000-145066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145025200-145037000	Weak transcription	Small Intestine	intestine
3	chr2:145025800-145035600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:145026200-145035800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:145026200-145037200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:145026200-145037400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:145026400-145036200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:145029600-145035400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:145030200-145036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:145030400-145035400	Weak transcription	Psoas Muscle	Psoas
11	chr2:145031200-145037600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:145032000-145045400	Weak transcription	Lung	lung
13	chr2:145032400-145035400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:145032400-145057000	Weak transcription	Primary B cells from cord blood	blood
15	chr2:145032600-145041600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:145032800-145038800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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