Variant report

Variant	rs59505116
Chromosome Location	chr2:145035573-145035574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs55637225	1.00[AMR][1000 genomes]
rs55915218	1.00[AMR][1000 genomes]
rs56001970	1.00[AMR][1000 genomes]
rs56258437	1.00[AMR][1000 genomes]
rs57183340	1.00[AMR][1000 genomes]
rs57398691	1.00[AMR][1000 genomes]
rs57410426	1.00[AMR][1000 genomes]
rs57677579	1.00[AMR][1000 genomes]
rs57783534	1.00[AMR][1000 genomes]
rs58722310	1.00[AMR][1000 genomes]
rs59290279	1.00[AMR][1000 genomes]
rs59430219	1.00[AMR][1000 genomes]
rs60225630	1.00[AMR][1000 genomes]
rs60644335	1.00[AMR][1000 genomes]
rs60696610	1.00[AMR][1000 genomes]
rs61639522	1.00[AMR][1000 genomes]
rs73962193	1.00[AMR][1000 genomes]
rs73962196	1.00[AMR][1000 genomes]
rs73964914	1.00[AMR][1000 genomes]
rs73964919	1.00[AMR][1000 genomes]
rs73964925	1.00[AMR][1000 genomes]
rs73964931	1.00[AMR][1000 genomes]
rs73964932	1.00[AMR][1000 genomes]
rs73964942	1.00[AMR][1000 genomes]
rs73964945	1.00[AMR][1000 genomes]
rs73964947	1.00[AMR][1000 genomes]
rs73964949	1.00[AMR][1000 genomes]
rs73964951	1.00[AMR][1000 genomes]
rs73964952	1.00[AMR][1000 genomes]
rs73964953	1.00[AMR][1000 genomes]
rs73964955	1.00[AMR][1000 genomes]
rs73964957	1.00[AMR][1000 genomes]
rs73964962	1.00[AMR][1000 genomes]
rs73964964	1.00[AMR][1000 genomes]
rs73964965	1.00[AMR][1000 genomes]
rs73964969	1.00[AMR][1000 genomes]
rs73964970	1.00[AMR][1000 genomes]
rs73964972	1.00[AMR][1000 genomes]
rs73964973	1.00[AMR][1000 genomes]
rs73964974	1.00[AMR][1000 genomes]
rs73964975	1.00[AMR][1000 genomes]
rs73964977	1.00[AMR][1000 genomes]
rs73964979	1.00[AMR][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:23 , 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	chr2:145030200-145036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:145031200-145037600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:145032000-145045400	Weak transcription	Lung	lung
11	chr2:145032400-145057000	Weak transcription	Primary B cells from cord blood	blood
12	chr2:145032600-145041600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:145032800-145038800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:145035400-145035600	Enhancers	Brain Substantia Nigra	brain
15	chr2:145035400-145035600	Enhancers	Psoas Muscle	Psoas
16	chr2:145035400-145035600	Enhancers	Spleen	Spleen
17	chr2:145035400-145035600	Enhancers	K562	blood
18	chr2:145035400-145035800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:145035400-145035800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:145035400-145035800	Enhancers	Aorta	Aorta
21	chr2:145035400-145036200	Enhancers	Fetal Lung	lung
22	chr2:145035400-145036400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:145035400-145037400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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