Variant report

Variant	rs10148991
Chromosome Location	chr14:68076038-68076039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68073077..68076511-chr14:68087971..68090364,3	K562	blood:
2	chr14:68075056..68078713-chr14:68081163..68083960,3	K562	blood:
3	chr14:68075869..68077403-chr14:68140671..68142363,2	K562	blood:
4	chr14:68073926..68076120-chr14:68169505..68171234,2	MCF-7	breast:
5	chr14:68070149..68071743-chr14:68075491..68077430,2	K562	blood:

Variant related genes	Relation type
ENSG00000100568	Chromatin interaction
ENSG00000259648	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10131481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10133414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10135791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10136482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10139933	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10140733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10141534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145465	0.96[AFR][1000 genomes]
rs10146550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10146702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150006	1.00[AFR][1000 genomes]
rs10150340	1.00[AFR][1000 genomes]
rs17104480	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17104482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17104486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28368810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28449642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28457193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28547499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28549243	1.00[AMR][1000 genomes]
rs28575699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3742876	0.98[ASN][1000 genomes]
rs3759760	1.00[ASN][1000 genomes]
rs3759761	1.00[ASN][1000 genomes]
rs4899215	0.90[AFR][1000 genomes]
rs8017597	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68071400-68076200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:68074800-68077600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:68075000-68077200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr14:68075400-68077000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr14:68075400-68077400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr14:68075600-68076800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr14:68075800-68076400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr14:68075800-68077600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr14:68076000-68076200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr14:68076000-68076800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:68076000-68076800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:68076000-68077200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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