Variant report

Variant	rs62157387
Chromosome Location	chr2:113472669-113472670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113470447..113473260-chr2:113504157..113506344,2	K562	blood:
2	chr2:113471766..113473686-chr2:113477982..113479580,2	MCF-7	breast:
3	chr2:113401638..113406636-chr2:113469377..113473888,9	K562	blood:
4	chr2:113470817..113472940-chr2:113481577..113484049,3	K562	blood:
5	chr2:112896674..112899558-chr2:113471538..113473155,2	K562	blood:
6	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
7	chr2:113469794..113474486-chr2:113475351..113478319,4	K562	blood:
8	chr2:113468636..113470784-chr2:113471239..113473518,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17042273	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157381	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157383	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157388	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157389	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3458160	chr2:113460280-113484749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3458161	chr2:113460322-113484724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3458162	chr2:113460460-113484652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv441775	chr2:113462399-113478887	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2755193	chr2:113467769-113478769	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv2756942	chr2:113469235-113478889	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2759084	chr2:113469235-113478889	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113469000-113474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:113469400-113484200	Weak transcription	Right Atrium	heart
4	chr2:113471200-113473000	Enhancers	A549	lung
5	chr2:113471400-113479200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:113471600-113473000	Weak transcription	Osteobl	bone
7	chr2:113472200-113473200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:113472200-113473200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:113472200-113473600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:113472200-113473600	Enhancers	NHEK	skin
11	chr2:113472400-113473200	Enhancers	HMEC	breast
12	chr2:113472400-113473200	Enhancers	NH-A	brain
13	chr2:113472400-113483000	Weak transcription	Spleen	Spleen
14	chr2:113472600-113472800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:113472600-113473000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:113472600-113473200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:113472600-113473200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:113472600-113473200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:113472600-113473200	Enhancers	NHDF-Ad	bronchial
20	chr2:113472600-113477800	Weak transcription	K562	blood

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