Variant report

Variant	rs8040050
Chromosome Location	chr15:39999497-39999498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39881585..39883327-chr15:39998681..40000213,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs16952161	1.00[EUR][1000 genomes]
rs16969215	1.00[EUR][1000 genomes]
rs16969280	1.00[EUR][1000 genomes]
rs16969283	1.00[EUR][1000 genomes]
rs16969285	1.00[EUR][1000 genomes]
rs16969287	1.00[EUR][1000 genomes]
rs16969291	1.00[EUR][1000 genomes]
rs16969292	1.00[EUR][1000 genomes]
rs16969293	1.00[AMR][1000 genomes]
rs16969296	1.00[EUR][1000 genomes]
rs16969300	1.00[EUR][1000 genomes]
rs16969305	1.00[EUR][1000 genomes]
rs16969309	1.00[EUR][1000 genomes]
rs16969312	1.00[EUR][1000 genomes]
rs16969314	1.00[EUR][1000 genomes]
rs16969544	1.00[EUR][1000 genomes]
rs16969546	1.00[EUR][1000 genomes]
rs41366349	1.00[AMR][1000 genomes]
rs55856565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57158008	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57522022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58092559	1.00[EUR][1000 genomes]
rs58757397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59258887	1.00[EUR][1000 genomes]
rs59831722	1.00[EUR][1000 genomes]
rs60652586	1.00[EUR][1000 genomes]
rs61694079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61731228	1.00[AMR][1000 genomes]
rs7162311	1.00[EUR][1000 genomes]
rs7173641	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7181929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385171	1.00[EUR][1000 genomes]
rs73385174	1.00[EUR][1000 genomes]
rs73395254	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395265	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008689	1.00[AMR][1000 genomes]
rs8036035	1.00[EUR][1000 genomes]
rs8036446	1.00[YRI][hapmap]
rs8037160	1.00[YRI][hapmap]
rs8040902	1.00[EUR][1000 genomes]
rs8041146	1.00[EUR][1000 genomes]
rs8041613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9673056	1.00[EUR][1000 genomes]
rs9806602	1.00[EUR][1000 genomes]
rs9806608	1.00[EUR][1000 genomes]
rs9806620	1.00[EUR][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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39994200-39999600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:39997000-40001800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:39997400-40000800	Weak transcription	NHDF-Ad	bronchial
4	chr15:39997600-40000800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:39997600-40002400	Weak transcription	Osteobl	bone
6	chr15:39999000-39999600	Enhancers	K562	blood
7	chr15:39999000-39999800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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