Variant report

Variant	rs2615061
Chromosome Location	chr1:225895806-225895807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12022037	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12023665	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12024341	0.85[EUR][1000 genomes]
rs12025069	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12036321	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12047500	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12048956	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1857008	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61850616	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61850655	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61850657	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6694856	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs943759	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	esv3416722	chr1:225893429-225897527	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225875200-225898600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:225882400-225908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:225888400-225899000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:225889200-225896600	Weak transcription	HepG2	liver
5	chr1:225889400-225909200	Weak transcription	Aorta	Aorta
6	chr1:225889600-225897400	Weak transcription	A549	lung
7	chr1:225889600-225898000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:225890400-225898200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:225890400-225898400	Weak transcription	Osteobl	bone
10	chr1:225893400-225902400	Weak transcription	Gastric	stomach
11	chr1:225893600-225898600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:225894000-225900400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:225894200-225897600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:225894200-225899200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:225895000-225898600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:225895200-225896200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:225895200-225897800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:225895400-225896000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:225895400-225896400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:225895600-225896200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:225895600-225896200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:225895600-225896400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:225895800-225896000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:225895800-225897000	Enhancers	Pancreas	Pancrea

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