Variant report

Variant	rs58207828
Chromosome Location	chr2:55464746-55464747
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55464660..55467438-chr2:55495235..55498187,2	K562	blood:
2	chr2:55463258..55466209-chr2:55509433..55511989,3	MCF-7	breast:
3	chr2:55463171..55466180-chr2:55659869..55661423,3	MCF-7	breast:
4	chr2:55464242..55465805-chr2:55843421..55845196,2	MCF-7	breast:
5	chr2:55440554..55442948-chr2:55464620..55466638,2	MCF-7	breast:
6	chr2:55274511..55278444-chr2:55462893..55465890,4	K562	blood:
7	chr19:13952048..13952789-chr2:55463880..55464774,2	Hela-S3	cervix:
8	chr2:55464205..55466134-chr2:55493979..55496397,3	K562	blood:
9	chr2:55463589..55465767-chr2:55732207..55734884,2	MCF-7	breast:
10	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:
11	chr2:55462896..55465238-chr2:55491054..55493846,2	MCF-7	breast:
12	chr2:55275648..55277729-chr2:55462893..55465890,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000162997	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000272606	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11887112	0.82[AMR][1000 genomes]
rs11890896	0.91[AMR][1000 genomes]
rs17046771	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17046787	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55726603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55735105	0.91[AMR][1000 genomes]
rs56219595	0.91[AMR][1000 genomes]
rs56887573	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56902676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57489147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57517202	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58485503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59832517	0.82[AMR][1000 genomes]
rs61197615	0.82[AMR][1000 genomes]
rs6707902	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716121	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721728	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723598	0.91[AMR][1000 genomes]
rs6724153	0.91[AMR][1000 genomes]
rs6736539	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936949	0.91[AMR][1000 genomes]
rs73936959	0.91[AMR][1000 genomes]
rs73936964	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7596403	0.91[AMR][1000 genomes]
rs7608709	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461000-55470200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:55461200-55464800	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:55461400-55466600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:55461400-55477600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:55461600-55466600	Strong transcription	Fetal Intestine Large	intestine
6	chr2:55461600-55466600	Strong transcription	HSMMtube	muscle
7	chr2:55461600-55467400	Strong transcription	Adipose Nuclei	Adipose
8	chr2:55461600-55467800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:55461600-55469400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:55461600-55471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:55461600-55477000	Strong transcription	Fetal Muscle Leg	muscle
12	chr2:55461600-55481600	Strong transcription	Fetal Thymus	thymus
13	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
15	chr2:55461800-55464800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:55461800-55464800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:55461800-55465200	Weak transcription	Fetal Stomach	stomach
18	chr2:55461800-55465400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr2:55461800-55465400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:55461800-55465800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:55461800-55466600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr2:55461800-55467400	Strong transcription	Liver	Liver
23	chr2:55461800-55467400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:55461800-55472400	Weak transcription	Gastric	stomach
25	chr2:55461800-55472400	Weak transcription	Right Ventricle	heart
26	chr2:55461800-55474400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
29	chr2:55462000-55466600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:55462000-55467200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:55462000-55467400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:55462000-55467600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:55462000-55472600	Weak transcription	Fetal Heart	heart
34	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:55462200-55467600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:55462200-55473200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:55462200-55490200	Weak transcription	Small Intestine	intestine
38	chr2:55462400-55464800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:55462400-55466600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:55462400-55467000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:55462400-55467200	Strong transcription	HMEC	breast
42	chr2:55462400-55467400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:55462400-55476800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:55462400-55476800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:55462600-55464800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:55462600-55466600	Strong transcription	Primary T cells from cord blood	blood
47	chr2:55462600-55466600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:55462600-55467200	Strong transcription	NHDF-Ad	bronchial
49	chr2:55462600-55485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:55462800-55467800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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