Variant report

Variant	rs57258055
Chromosome Location	chr2:114082119-114082120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114081925..114084093-chr2:114086383..114088538,3	MCF-7	breast:
2	chr14:96000768..96001608-chr2:114082065..114082796,2	HCT-116	colon:
3	chr2:114081798..114083531-chr2:114086995..114089661,2	K562	blood:

Variant related genes	Relation type
ENSG00000182512	Chromatin interaction
ENSG00000247092	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17043296	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2001351	0.84[AMR][1000 genomes]
rs2863958	0.84[AMR][1000 genomes]
rs55809708	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55895659	0.84[AMR][1000 genomes]
rs56088998	0.84[AMR][1000 genomes]
rs59766856	0.87[AMR][1000 genomes]
rs62158165	0.82[AMR][1000 genomes]
rs72611917	0.84[AMR][1000 genomes]
rs72611918	0.84[AMR][1000 genomes]
rs72611919	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv10129	chr2:114080875-114082808	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114080600-114082200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:114080600-114082200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:114080800-114082200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:114081000-114082200	Enhancers	Fetal Intestine Large	intestine
5	chr2:114081000-114082200	Enhancers	HMEC	breast
6	chr2:114081200-114082600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:114081600-114082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:114081600-114082200	Enhancers	Fetal Intestine Small	intestine
9	chr2:114081600-114082200	Enhancers	Placenta	Placenta
10	chr2:114081600-114082400	Enhancers	Fetal Heart	heart
11	chr2:114081600-114082600	Enhancers	Lung	lung
12	chr2:114081600-114083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:114081800-114082200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:114081800-114082200	Enhancers	Esophagus	oesophagus
15	chr2:114081800-114082200	Bivalent Enhancer	Thymus	Thymus
16	chr2:114081800-114082200	Flanking Active TSS	Osteobl	bone
17	chr2:114081800-114082400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:114081800-114082400	Flanking Active TSS	Fetal Brain Female	brain
19	chr2:114081800-114082400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr2:114081800-114082400	Flanking Active TSS	NH-A	brain
21	chr2:114081800-114082400	Flanking Active TSS	NHEK	skin
22	chr2:114081800-114082600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr2:114081800-114082600	Active TSS	Fetal Kidney	kidney
24	chr2:114081800-114082800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr2:114082000-114082200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:114082000-114082200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:114082000-114082200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr2:114082000-114082200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr2:114082000-114082200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr2:114082000-114082200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr2:114082000-114082200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:114082000-114082200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:114082000-114082200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:114082000-114082200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr2:114082000-114082200	Enhancers	Primary B cells from cord blood	blood
36	chr2:114082000-114082200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:114082000-114082200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:114082000-114082200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:114082000-114082200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:114082000-114082200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:114082000-114082200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:114082000-114082200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:114082000-114082200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr2:114082000-114082200	Enhancers	Brain Angular Gyrus	brain
45	chr2:114082000-114082200	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr2:114082000-114082200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
47	chr2:114082000-114082200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:114082000-114082200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr2:114082000-114082200	Enhancers	Colonic Mucosa	Colon
50	chr2:114082000-114082200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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