Variant report

Variant	rs66616139
Chromosome Location	chr2:111474754-111474755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:111474450-111474767	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:111474448-111475608	MCF10A-Er-Src	breast:	n/a	chr2:111474815-111474825 chr2:111474815-111474825 chr2:111474814-111474826
3	CEBPB	chr2:111474515-111474807	HepG2	liver:	n/a	n/a
4	NFIC	chr2:111474570-111475677	GM12878	blood:	n/a	n/a
5	STAT3	chr2:111474601-111475608	MCF10A-Er-Src	breast:	n/a	chr2:111475058-111475066
6	FOS	chr2:111474493-111475606	MCF10A-Er-Src	breast:	n/a	chr2:111474815-111474825 chr2:111474815-111474825 chr2:111474814-111474826
7	FOS	chr2:111474467-111475585	MCF10A-Er-Src	breast:	n/a	chr2:111474815-111474825 chr2:111474815-111474825 chr2:111474814-111474826
8	EBF1	chr2:111474637-111474939	GM12878	blood:	n/a	chr2:111474764-111474775
9	STAT3	chr2:111474507-111475608	MCF10A-Er-Src	breast:	n/a	chr2:111475058-111475066
10	STAT3	chr2:111474746-111475172	MCF10A-Er-Src	breast:	n/a	chr2:111475058-111475066
11	STAT3	chr2:111474488-111475608	MCF10A-Er-Src	breast:	n/a	chr2:111475058-111475066
12	FOS	chr2:111474464-111475606	MCF10A-Er-Src	breast:	n/a	chr2:111474815-111474825 chr2:111474815-111474825 chr2:111474814-111474826
13	MYC	chr2:111474436-111475600	MCF10A-Er-Src	breast:	n/a	n/a
14	RUNX3	chr2:111474650-111475172	GM12878	blood:	n/a	n/a
15	MAFK	chr2:111474525-111474793	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111434829..111436465-chr2:111474243..111475870,2	K562	blood:

Variant related genes	Relation type
ENSG00000235881	TF binding region
ENSG00000169679	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs13426054	0.84[ASN][1000 genomes]
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	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	1.00[EUR][1000 genomes]
rs56062220	1.00[EUR][1000 genomes]
rs56110941	1.00[EUR][1000 genomes]
rs56146538	1.00[EUR][1000 genomes]
rs56165253	1.00[EUR][1000 genomes]
rs56169320	0.82[EUR][1000 genomes]
rs56177778	1.00[EUR][1000 genomes]
rs56181028	1.00[EUR][1000 genomes]
rs56238325	1.00[EUR][1000 genomes]
rs56260092	1.00[EUR][1000 genomes]
rs56272335	1.00[EUR][1000 genomes]
rs56281800	0.82[EUR][1000 genomes]
rs56289191	1.00[EUR][1000 genomes]
rs56320021	1.00[EUR][1000 genomes]
rs57101781	0.82[EUR][1000 genomes]
rs57318054	1.00[EUR][1000 genomes]
rs57847126	0.82[EUR][1000 genomes]
rs57862073	1.00[EUR][1000 genomes]
rs58054304	1.00[EUR][1000 genomes]
rs58569659	1.00[EUR][1000 genomes]
rs58588523	1.00[EUR][1000 genomes]
rs59258102	1.00[EUR][1000 genomes]
rs59413237	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]
rs6728168	1.00[ASN][1000 genomes]
rs6752335	0.81[ASN][1000 genomes]
rs68130860	0.84[ASN][1000 genomes]
rs72828836	0.82[EUR][1000 genomes]
rs72828838	0.82[EUR][1000 genomes]
rs72828843	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72828844	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72828845	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72828846	1.00[EUR][1000 genomes]
rs72828847	0.89[ASN][1000 genomes]
rs72828848	0.85[ASN][1000 genomes]
rs72828849	1.00[EUR][1000 genomes]
rs72828851	1.00[EUR][1000 genomes]
rs72828852	1.00[EUR][1000 genomes]
rs72828854	1.00[EUR][1000 genomes]
rs72828856	1.00[EUR][1000 genomes]
rs72828857	1.00[EUR][1000 genomes]
rs72828859	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111472000-111475000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:111472000-111475000	Weak transcription	NHEK	skin
3	chr2:111472600-111476400	Weak transcription	Placenta	Placenta
4	chr2:111473000-111474800	Weak transcription	Liver	Liver
5	chr2:111473000-111474800	Weak transcription	Fetal Kidney	kidney
6	chr2:111473200-111474800	Weak transcription	Adipose Nuclei	Adipose
7	chr2:111473800-111475000	Weak transcription	Aorta	Aorta
8	chr2:111473800-111477400	Weak transcription	Left Ventricle	heart
9	chr2:111474200-111474800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:111474400-111475400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:111474400-111475800	Bivalent Enhancer	Osteobl	bone
12	chr2:111474400-111476600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:111474600-111475000	Bivalent Enhancer	NHDF-Ad	bronchial
14	chr2:111474600-111475200	Enhancers	Fetal Lung	lung
15	chr2:111474600-111475200	Enhancers	Right Atrium	heart
16	chr2:111474600-111475200	Bivalent Enhancer	NHLF	lung
17	chr2:111474600-111475600	Enhancers	HMEC	breast
18	chr2:111474600-111475800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:111474600-111475800	Enhancers	GM12878-XiMat	blood
20	chr2:111474600-111478000	Enhancers	Ovary	ovary

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