Variant report

Variant	rs57259679
Chromosome Location	chr4:127682435-127682436
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127676639..127678902-chr4:127680552..127682952,2	K562	blood:
2	chr4:127662026..127664437-chr4:127681232..127683698,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11098889	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1167192	0.92[ASN][1000 genomes]
rs12054615	0.90[ASN][1000 genomes]
rs12641500	0.81[ASN][1000 genomes]
rs12642385	1.00[AMR][1000 genomes]
rs12642562	0.86[ASN][1000 genomes]
rs12642699	0.86[ASN][1000 genomes]
rs12644037	1.00[AMR][1000 genomes]
rs12648195	1.00[AMR][1000 genomes]
rs12649618	1.00[AMR][1000 genomes]
rs12650738	0.93[ASN][1000 genomes]
rs12651202	1.00[AMR][1000 genomes]
rs13145010	0.83[ASN][1000 genomes]
rs13151312	0.92[ASN][1000 genomes]
rs1491136	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1491137	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1491138	0.81[ASN][1000 genomes]
rs1503620	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17011377	1.00[AMR][1000 genomes]
rs17011393	1.00[AMR][1000 genomes]
rs17011398	1.00[AMR][1000 genomes]
rs17011450	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17011452	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17011495	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17011663	0.86[ASN][1000 genomes]
rs2008243	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2047858	0.90[ASN][1000 genomes]
rs2174183	0.92[ASN][1000 genomes]
rs2654715	0.80[ASN][1000 genomes]
rs313108	0.84[ASN][1000 genomes]
rs313110	0.84[ASN][1000 genomes]
rs313111	0.84[ASN][1000 genomes]
rs313112	0.84[ASN][1000 genomes]
rs313116	0.85[ASN][1000 genomes]
rs4146615	0.83[AMR][1000 genomes]
rs5004421	0.86[ASN][1000 genomes]
rs56654496	0.89[ASN][1000 genomes]
rs57840308	1.00[AMR][1000 genomes]
rs58743449	0.91[ASN][1000 genomes]
rs60412879	1.00[AMR][1000 genomes]
rs61031744	0.91[ASN][1000 genomes]
rs61613462	0.91[ASN][1000 genomes]
rs6817065	0.93[ASN][1000 genomes]
rs73846080	0.88[ASN][1000 genomes]
rs73846081	0.88[ASN][1000 genomes]
rs73846082	0.88[ASN][1000 genomes]
rs73846083	0.88[ASN][1000 genomes]
rs7660412	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7683495	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7697724	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879907	chr4:127646765-127709859	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	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
9	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
10	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127677000-127684000	Weak transcription	K562	blood
2	chr4:127680000-127682800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:127681400-127683000	Weak transcription	HMEC	breast
4	chr4:127682000-127683400	Weak transcription	Muscle Satellite Cultured Cells	--

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