Variant report

Variant	rs60111480
Chromosome Location	chr2:54046438-54046439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7559668	1.00[AMR][1000 genomes]
rs7586328	0.94[AFR][1000 genomes]
rs7586453	1.00[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	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1009829	chr2:53980562-54051927	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54015200-54051600	Weak transcription	Stomach Mucosa	stomach
2	chr2:54015200-54053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:54015600-54054600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:54015800-54054000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:54020600-54047200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:54020600-54048400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:54020600-54048600	Strong transcription	Osteobl	bone
8	chr2:54021000-54047200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:54021000-54047200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:54021000-54047400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:54021000-54048000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:54021200-54047200	Strong transcription	Placenta	Placenta
13	chr2:54021200-54047600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:54021400-54047000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:54021400-54047000	Strong transcription	Fetal Thymus	thymus
16	chr2:54021800-54047600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:54022000-54047000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:54022000-54047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:54022000-54047200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:54022000-54047600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:54022200-54046600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:54022200-54047200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:54023000-54053800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:54025800-54062000	Weak transcription	Right Ventricle	heart
25	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:54030200-54047200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:54030400-54063000	Weak transcription	Esophagus	oesophagus
28	chr2:54031400-54047200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:54032800-54046800	Strong transcription	Primary B cells from cord blood	blood
30	chr2:54033000-54047200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:54034400-54047200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:54034600-54047200	Strong transcription	HSMM	muscle
33	chr2:54035800-54052800	Weak transcription	Brain Substantia Nigra	brain
34	chr2:54037200-54047200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:54038800-54053000	Weak transcription	Fetal Brain Male	brain
36	chr2:54039600-54047000	Strong transcription	A549	lung
37	chr2:54040200-54055000	Weak transcription	Fetal Heart	heart
38	chr2:54040600-54047200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:54040600-54053000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:54040800-54048000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:54040800-54053000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:54040800-54053000	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:54041400-54049200	Weak transcription	K562	blood
44	chr2:54041400-54054600	Weak transcription	Psoas Muscle	Psoas
45	chr2:54041400-54056400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:54042200-54046800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:54042200-54047600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:54042400-54046600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:54042400-54046800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:54042400-54047200	Strong transcription	Muscle Satellite Cultured Cells	--

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