Variant report

Variant	rs10191748
Chromosome Location	chr2:55235966-55235967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55233909..55236096-chr2:55275198..55277851,2	K562	blood:
2	chr2:55224031..55227614-chr2:55234894..55236977,3	K562	blood:
3	chr2:55219389..55222736-chr2:55233484..55237490,3	MCF-7	breast:
4	chr2:55228082..55231303-chr2:55231498..55236378,7	K562	blood:
5	chr2:55224682..55227904-chr2:55233478..55236485,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10084445	0.85[AMR][1000 genomes]
rs10170102	0.85[AMR][1000 genomes]
rs10175952	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10179491	0.82[AMR][1000 genomes]
rs10181115	0.85[AMR][1000 genomes]
rs10191684	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10191774	0.84[AMR][1000 genomes]
rs10197533	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10198096	0.85[AMR][1000 genomes]
rs10206953	0.84[AMR][1000 genomes]
rs10207701	0.96[AMR][1000 genomes]
rs13385999	0.82[AMR][1000 genomes]
rs13387710	0.96[AMR][1000 genomes]
rs13394823	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13394824	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13400353	0.87[AMR][1000 genomes]
rs17046567	0.85[AMR][1000 genomes]
rs17046569	0.85[AMR][1000 genomes]
rs60989108	0.85[AMR][1000 genomes]
rs6545469	0.84[AMR][1000 genomes]
rs6725187	0.82[AMR][1000 genomes]
rs72912579	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7584992	0.82[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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55198200-55237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
3	chr2:55214800-55236800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:55220400-55236800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:55223000-55237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:55224800-55236800	Enhancers	A549	lung
7	chr2:55226600-55237200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:55226800-55236600	Weak transcription	Right Atrium	heart
9	chr2:55226800-55237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:55227000-55236600	Weak transcription	Brain Germinal Matrix	brain
11	chr2:55227200-55236800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:55227400-55236800	Weak transcription	Fetal Brain Male	brain
13	chr2:55227400-55237000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:55227600-55236400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:55227600-55236800	Weak transcription	HSMMtube	muscle
16	chr2:55227600-55239000	Weak transcription	Hela-S3	cervix
17	chr2:55227800-55236800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:55227800-55236800	Weak transcription	NH-A	brain
19	chr2:55228000-55236400	Weak transcription	GM12878-XiMat	blood
20	chr2:55228000-55236600	Weak transcription	Primary B cells from cord blood	blood
21	chr2:55228400-55236000	Enhancers	Brain Hippocampus Middle	brain
22	chr2:55228400-55236200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:55229000-55236800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:55229600-55237200	Weak transcription	Pancreas	Pancrea
25	chr2:55230000-55236600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:55230800-55237000	Weak transcription	HUVEC	blood vessel
27	chr2:55231000-55237400	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr2:55231000-55238200	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr2:55231600-55236600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:55231600-55236800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:55232000-55236600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:55232000-55236800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:55232200-55236600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:55232200-55237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:55232200-55244800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:55232400-55236800	Weak transcription	Placenta	Placenta
37	chr2:55232400-55237200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:55232800-55236800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:55233200-55236200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:55233200-55236600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:55233200-55236600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:55233200-55237600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:55233200-55240400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:55233400-55236400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr2:55233600-55236000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:55233600-55236000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr2:55233600-55236600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:55233600-55237000	Weak transcription	Fetal Brain Female	brain
49	chr2:55233600-55237400	Active TSS	Fetal Muscle Leg	muscle
50	chr2:55233800-55236800	Enhancers	NHEK	skin

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