Variant report

Variant	rs60215345
Chromosome Location	chr2:11665382-11665383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11663500..11666422-chr2:11667981..11669771,2	K562	blood:
2	chr2:11483030..11485072-chr2:11665058..11667808,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10427206	1.00[EUR][1000 genomes]
rs10520085	1.00[EUR][1000 genomes]
rs16857583	1.00[EUR][1000 genomes]
rs16857586	0.82[AFR][1000 genomes]
rs56714132	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56805168	1.00[EUR][1000 genomes]
rs57108153	1.00[EUR][1000 genomes]
rs57932839	1.00[EUR][1000 genomes]
rs58950938	1.00[EUR][1000 genomes]
rs59489734	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59636084	1.00[EUR][1000 genomes]
rs59885883	0.82[AFR][1000 genomes]
rs59936690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61039324	1.00[EUR][1000 genomes]
rs6728365	0.82[AFR][1000 genomes]
rs73180151	1.00[EUR][1000 genomes]
rs73187491	1.00[EUR][1000 genomes]
rs73187494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189350	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189353	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189354	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189377	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73915421	1.00[EUR][1000 genomes]
rs73915425	1.00[EUR][1000 genomes]
rs73915426	1.00[EUR][1000 genomes]
rs73915428	1.00[EUR][1000 genomes]
rs73915429	1.00[EUR][1000 genomes]
rs73915430	1.00[EUR][1000 genomes]
rs73915431	1.00[EUR][1000 genomes]
rs73915432	1.00[EUR][1000 genomes]
rs73915433	1.00[EUR][1000 genomes]
rs73915434	1.00[EUR][1000 genomes]
rs73915435	1.00[EUR][1000 genomes]
rs73915443	1.00[EUR][1000 genomes]
rs73917236	1.00[EUR][1000 genomes]
rs73917248	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11647000-11665800	Weak transcription	Right Atrium	heart
2	chr2:11656200-11671000	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:11656200-11672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:11661200-11666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:11662400-11668000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:11662800-11665600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:11664200-11666000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:11664600-11665600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11664600-11676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:11664800-11666000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:11665000-11665800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:11665000-11665800	Weak transcription	Right Ventricle	heart
13	chr2:11665000-11667400	Weak transcription	HepG2	liver
14	chr2:11665000-11671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:11665000-11672200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:11665000-11678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:11665200-11666200	Enhancers	Ovary	ovary

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