Variant report

Variant	rs59766856
Chromosome Location	chr2:114083346-114083347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114081925..114084093-chr2:114086383..114088538,3	MCF-7	breast:
2	chr2:114081798..114083531-chr2:114086995..114089661,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11894313	0.80[EUR][1000 genomes]
rs2001351	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2004323	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2863958	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4088308	0.94[EUR][1000 genomes]
rs55637730	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55769337	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55809708	0.83[AMR][1000 genomes]
rs55895659	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56082174	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56088998	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56111627	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56215109	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57258055	0.87[AMR][1000 genomes]
rs60409272	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60522356	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60600282	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62158165	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6710412	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72611917	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72611918	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72611919	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72611921	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72611922	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114081600-114083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:114082000-114083400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:114082000-114083400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:114082000-114083400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr2:114082000-114083400	Enhancers	Spleen	Spleen
6	chr2:114082200-114083400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:114082200-114083400	Active TSS	Brain Angular Gyrus	brain
8	chr2:114082200-114083600	Active TSS	Right Ventricle	heart
9	chr2:114082400-114083400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:114082400-114083400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:114082400-114083400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114082400-114083400	Enhancers	Brain Substantia Nigra	brain
13	chr2:114082400-114083400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:114082400-114083400	Active TSS	NHLF	lung
15	chr2:114082400-114083600	Enhancers	Fetal Brain Male	brain
16	chr2:114082400-114083800	Active TSS	A549	lung
17	chr2:114082400-114084600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:114082600-114083400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:114082800-114083400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr2:114082800-114083400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:114082800-114083400	Flanking Active TSS	Liver	Liver
22	chr2:114082800-114083400	Enhancers	Placenta	Placenta
23	chr2:114082800-114083400	Flanking Active TSS	Fetal Stomach	stomach
24	chr2:114082800-114083600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:114083000-114083400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr2:114083000-114083400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:114083000-114083400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:114083000-114083400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:114083000-114083400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:114083000-114083400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:114083000-114083400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:114083000-114083400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:114083000-114083400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:114083000-114083400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr2:114083000-114083400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr2:114083000-114083400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:114083000-114083400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:114083000-114083400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr2:114083000-114083400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:114083000-114083400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:114083000-114083400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:114083000-114083400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:114083000-114083400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:114083000-114083400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:114083000-114083400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:114083000-114083400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr2:114083000-114083400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr2:114083000-114083400	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr2:114083000-114083400	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:114083000-114083400	Enhancers	Fetal Muscle Leg	muscle

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