Variant report

Variant	rs58686486
Chromosome Location	chr2:113471249-113471250
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113470447..113473260-chr2:113504157..113506344,2	K562	blood:
2	chr2:113420962..113423174-chr2:113470482..113472440,2	K562	blood:
3	chr2:113470817..113472423-chr2:113482357..113484049,2	K562	blood:
4	chr2:113414501..113417087-chr2:113468688..113471406,2	K562	blood:
5	chr2:113470986..113471535-chr2:113484133..113484894,2	K562	blood:
6	chr2:113401638..113406636-chr2:113469377..113473888,9	K562	blood:
7	chr2:113470817..113472940-chr2:113481577..113484049,3	K562	blood:
8	chr2:113470616..113472582-chr2:113482683..113484318,2	MCF-7	breast:
9	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
10	chr2:113450086..113451690-chr2:113470849..113472489,2	K562	blood:
11	chr2:113469794..113474486-chr2:113475351..113478319,4	K562	blood:
12	chr2:113468636..113470784-chr2:113471239..113473518,2	MCF-7	breast:
13	chr2:113462767..113464610-chr2:113470290..113471852,2	K562	blood:
14	chr2:113415587..113417242-chr2:113468748..113471406,3	K562	blood:

No data

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

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55884358	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350405	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58533146	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:38 , 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	chr2:113468800-113472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:113469000-113474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:113469400-113484200	Weak transcription	Right Atrium	heart
5	chr2:113469600-113471400	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:113469800-113471600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:113470000-113471400	Enhancers	NHDF-Ad	bronchial
8	chr2:113470000-113471800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:113470000-113471800	Enhancers	Spleen	Spleen
10	chr2:113470200-113471400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:113470200-113471400	Enhancers	NHLF	lung
12	chr2:113470200-113471600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:113470400-113471400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:113470400-113471600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:113470400-113471600	Enhancers	NH-A	brain
16	chr2:113470400-113471600	Enhancers	Osteobl	bone
17	chr2:113470400-113471800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:113470600-113471400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:113470600-113471400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:113470600-113471400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:113470600-113471400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr2:113470600-113471400	Enhancers	Right Ventricle	heart
23	chr2:113470600-113471600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:113470600-113471600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:113470600-113471800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:113470600-113471800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:113470600-113471800	Enhancers	NHEK	skin
28	chr2:113470800-113471400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:113470800-113471400	Enhancers	Esophagus	oesophagus
30	chr2:113470800-113471600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:113471000-113471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:113471000-113471400	Enhancers	Placenta	Placenta
33	chr2:113471000-113471400	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr2:113471000-113471600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:113471200-113472400	Weak transcription	HMEC	breast
36	chr2:113471200-113472600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:113471200-113472600	Enhancers	K562	blood
38	chr2:113471200-113473000	Enhancers	A549	lung

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