Variant report

Variant	rs56165253
Chromosome Location	chr2:111471599-111471600
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	chr2:111466606..111468738-chr2:111469120..111471905,2	MCF-7	breast:
2	chr2:111434356..111437231-chr2:111469856..111472089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169679	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs17041539	0.82[EUR][1000 genomes]
rs17041553	0.82[EUR][1000 genomes]
rs17041554	0.82[EUR][1000 genomes]
rs17041555	0.82[EUR][1000 genomes]
rs17041561	0.82[EUR][1000 genomes]
rs28452164	1.00[EUR][1000 genomes]
rs34026418	0.82[EUR][1000 genomes]
rs3817265	0.82[EUR][1000 genomes]
rs4255970	1.00[EUR][1000 genomes]
rs55682108	1.00[EUR][1000 genomes]
rs55780486	0.82[EUR][1000 genomes]
rs55849112	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55857945	1.00[EUR][1000 genomes]
rs55875504	1.00[EUR][1000 genomes]
rs55875530	1.00[EUR][1000 genomes]
rs55927063	1.00[EUR][1000 genomes]
rs56010803	0.82[EUR][1000 genomes]
rs56031628	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56062220	1.00[EUR][1000 genomes]
rs56110941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56146538	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56169320	0.82[EUR][1000 genomes]
rs56177778	1.00[EUR][1000 genomes]
rs56181028	1.00[EUR][1000 genomes]
rs56238325	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56260092	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272335	1.00[EUR][1000 genomes]
rs56281800	0.82[EUR][1000 genomes]
rs56289191	1.00[EUR][1000 genomes]
rs56320021	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56329304	1.00[AFR][1000 genomes]
rs57101781	0.82[EUR][1000 genomes]
rs57318054	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57847126	0.82[EUR][1000 genomes]
rs57862073	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58054304	1.00[EUR][1000 genomes]
rs58569659	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58588523	1.00[EUR][1000 genomes]
rs59258102	1.00[EUR][1000 genomes]
rs59413237	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60185821	0.82[EUR][1000 genomes]
rs60357733	1.00[EUR][1000 genomes]
rs61124407	1.00[EUR][1000 genomes]
rs61376946	0.82[EUR][1000 genomes]
rs61637608	0.92[EUR][1000 genomes]
rs66616139	1.00[EUR][1000 genomes]
rs6752335	0.87[ASN][1000 genomes]
rs72828836	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72828838	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72828843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828845	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828846	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828849	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828851	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828852	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828854	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828856	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828857	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828859	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828861	1.00[EUR][1000 genomes]
rs72830976	1.00[EUR][1000 genomes]
rs72830979	1.00[EUR][1000 genomes]
rs72830980	1.00[EUR][1000 genomes]
rs72830982	1.00[EUR][1000 genomes]
rs72830984	1.00[EUR][1000 genomes]
rs72830985	1.00[EUR][1000 genomes]
rs72830986	1.00[EUR][1000 genomes]
rs72830989	1.00[EUR][1000 genomes]
rs72830990	0.82[EUR][1000 genomes]
rs72830993	1.00[EUR][1000 genomes]
rs72830995	0.92[EUR][1000 genomes]
rs72830997	1.00[EUR][1000 genomes]
rs72831000	1.00[EUR][1000 genomes]
rs72832803	1.00[EUR][1000 genomes]
rs72832804	1.00[EUR][1000 genomes]
rs72832809	1.00[EUR][1000 genomes]
rs72832810	1.00[EUR][1000 genomes]
rs72832813	1.00[EUR][1000 genomes]
rs72832815	1.00[EUR][1000 genomes]
rs72832816	1.00[EUR][1000 genomes]
rs72832817	1.00[EUR][1000 genomes]
rs72832818	1.00[EUR][1000 genomes]
rs72832820	0.82[EUR][1000 genomes]
rs72832821	0.82[EUR][1000 genomes]
rs72832822	0.82[EUR][1000 genomes]
rs72832824	0.82[EUR][1000 genomes]
rs72832826	0.82[EUR][1000 genomes]
rs72832828	0.82[EUR][1000 genomes]
rs72832837	0.82[EUR][1000 genomes]
rs72832838	0.82[EUR][1000 genomes]
rs72832839	0.82[EUR][1000 genomes]
rs72832841	0.82[EUR][1000 genomes]
rs72832842	0.82[EUR][1000 genomes]
rs72832843	0.82[EUR][1000 genomes]
rs72832846	0.82[EUR][1000 genomes]
rs977406	0.82[EUR][1000 genomes]
rs981196	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111467600-111471800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:111467600-111471800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:111467800-111471800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:111469400-111472600	Enhancers	Placenta	Placenta
5	chr2:111470400-111472000	Enhancers	Fetal Intestine Large	intestine
6	chr2:111471000-111471600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:111471000-111472000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:111471000-111472600	Enhancers	HMEC	breast
9	chr2:111471200-111471600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:111471200-111472000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:111471200-111472000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:111471200-111472000	Enhancers	NHEK	skin

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