Variant report

Variant	rs60715791
Chromosome Location	chr4:127754603-127754604
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	chr4:127753877..127756551-chr4:127761614..127765337,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10434047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12054615	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12641500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12642699	0.93[ASN][1000 genomes]
rs12648133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12651411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130797	0.90[ASN][1000 genomes]
rs16997936	0.92[ASN][1000 genomes]
rs17011663	0.89[ASN][1000 genomes]
rs17011712	0.92[ASN][1000 genomes]
rs17011713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17011996	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012000	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012020	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012036	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012038	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012040	0.82[AMR][1000 genomes]
rs1910441	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2047858	0.89[ASN][1000 genomes]
rs56654496	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56822169	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58035425	1.00[ASN][1000 genomes]
rs58743449	0.88[ASN][1000 genomes]
rs58838664	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60595161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61031744	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61613462	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3367258	chr4:127749396-127772702	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127716000-127756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127751000-127764000	Weak transcription	K562	blood

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