Variant report

Variant	rs66785117
Chromosome Location	chr6:27523298-27523299
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27521716..27523597-chr6:27638518..27641412,2	K562	blood:
2	chr6:27522451..27525164-chr6:27546667..27548456,2	K562	blood:
3	chr6:27522886..27525493-chr6:27528016..27530032,2	K562	blood:
4	chr6:27520903..27523878-chr6:27561222..27562746,2	MCF-7	breast:
5	chr6:27519856..27523854-chr6:27536645..27540077,3	K562	blood:
6	chr6:27520667..27523597-chr6:27638518..27640163,2	K562	blood:
7	chr6:27518662..27523972-chr6:27530343..27535715,8	K562	blood:

Variant related genes	Relation type
ENSG00000219738	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10484399	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13191227	0.83[EUR][1000 genomes]
rs13191474	0.91[EUR][1000 genomes]
rs13192965	0.85[EUR][1000 genomes]
rs13195040	0.91[EUR][1000 genomes]
rs13195636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13196692	0.83[EUR][1000 genomes]
rs13202775	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13207689	0.85[EUR][1000 genomes]
rs13209332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13210634	0.85[EUR][1000 genomes]
rs13212318	0.83[EUR][1000 genomes]
rs13215275	0.85[EUR][1000 genomes]
rs13217620	0.85[EUR][1000 genomes]
rs13218537	0.83[EUR][1000 genomes]
rs17749927	0.85[EUR][1000 genomes]
rs28360634	0.81[EUR][1000 genomes]
rs34064842	0.83[EUR][1000 genomes]
rs34071253	0.82[EUR][1000 genomes]
rs34105070	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34196306	0.90[EUR][1000 genomes]
rs34332556	0.83[EUR][1000 genomes]
rs34409918	0.83[EUR][1000 genomes]
rs34432857	0.83[EUR][1000 genomes]
rs34573979	0.96[EUR][1000 genomes]
rs34613987	0.89[EUR][1000 genomes]
rs34864796	0.89[EUR][1000 genomes]
rs34953377	0.83[EUR][1000 genomes]
rs34965299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35120058	0.83[EUR][1000 genomes]
rs35715914	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35716472	0.82[EUR][1000 genomes]
rs35848276	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35984974	0.82[EUR][1000 genomes]
rs41269265	0.91[EUR][1000 genomes]
rs56405707	0.85[EUR][1000 genomes]
rs58616630	0.96[EUR][1000 genomes]
rs66841633	0.83[EUR][1000 genomes]
rs67240003	0.89[EUR][1000 genomes]
rs67652222	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67859638	0.85[EUR][1000 genomes]
rs6904596	0.89[EUR][1000 genomes]
rs6918792	0.87[EUR][1000 genomes]
rs71559038	0.83[EUR][1000 genomes]
rs72839477	0.81[EUR][1000 genomes]
rs72845046	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72845070	0.85[EUR][1000 genomes]
rs7749305	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv1018107	chr6:27503525-27596736	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv538168	chr6:27503525-27596736	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27521600-27523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:27521600-27523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:27522400-27526000	Weak transcription	K562	blood

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