Variant report

Variant	rs60665449
Chromosome Location	chr2:111959687-111959688
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111878454..111881021-chr2:111957218..111960046,3	K562	blood:
2	chr2:111949295..111952231-chr2:111957401..111960814,4	K562	blood:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11123410	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849463	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542353	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6749625	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs938100	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9636364	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS 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 miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111950200-111969600	Weak transcription	Dnd41	blood
2	chr2:111952200-111974800	Weak transcription	Aorta	Aorta
3	chr2:111952600-111963600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:111952600-111965200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:111953000-111968000	Weak transcription	K562	blood
6	chr2:111954600-111960000	Weak transcription	HSMMtube	muscle
7	chr2:111954800-112006800	Weak transcription	HUVEC	blood vessel
8	chr2:111955000-111960200	Weak transcription	HSMM	muscle
9	chr2:111955200-111963400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:111957200-111972400	Weak transcription	NHLF	lung
11	chr2:111958000-111960600	Enhancers	GM12878-XiMat	blood
12	chr2:111958000-111974400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:111958400-111967600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:111958400-111968600	Weak transcription	HepG2	liver
15	chr2:111958400-111972000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:111958400-111974200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:111959200-111962800	Weak transcription	Spleen	Spleen
18	chr2:111959200-111964600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:111959200-111966000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:111959600-111960400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:111959600-111960600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:111959600-111960800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:111959600-111960800	Enhancers	Osteobl	bone
24	chr2:111959600-111962000	Enhancers	NH-A	brain

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