Variant report

Variant	rs61922017
Chromosome Location	chr12:12448061-12448062
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12435921..12437917-chr12:12447331..12449825,2	MCF-7	breast:
2	chr12:12418262..12420132-chr12:12447885..12450626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10845520	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10845522	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11054772	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11054776	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12146805	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1420731	0.88[ASN][1000 genomes]
rs4763796	0.86[ASN][1000 genomes]
rs7302624	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7959262	0.85[EUR][1000 genomes];0.93[ASN][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12446000-12448200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr12:12446200-12448200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:12446600-12448200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:12446600-12449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:12446800-12448200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:12446800-12449000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:12447000-12448200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:12447000-12448200	Enhancers	HUVEC	blood vessel
9	chr12:12447200-12448200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:12447200-12448200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:12447400-12448200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:12447400-12448200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:12447400-12448200	Enhancers	Fetal Intestine Large	intestine
14	chr12:12447400-12448200	Enhancers	HepG2	liver
15	chr12:12447400-12448400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:12447600-12448200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:12447600-12448400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:12447600-12450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:12447800-12448200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:12447800-12449200	Enhancers	Liver	Liver
21	chr12:12447800-12450000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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