Variant report

Variant	rs2248558
Chromosome Location	chr11:120426508-120426509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2252227	0.87[AMR][1000 genomes]
rs2252233	0.87[AMR][1000 genomes]
rs2252249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2252373	0.87[AMR][1000 genomes]
rs2510879	0.93[AMR][1000 genomes]
rs60832118	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7107157	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised 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	1 gene(s)	inside rSNPs	diseases
8	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120419800-120429600	Weak transcription	Right Ventricle	heart
2	chr11:120419800-120433600	Weak transcription	Right Atrium	heart
3	chr11:120423800-120426800	Enhancers	Ovary	ovary
4	chr11:120424000-120428200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:120424600-120433600	Weak transcription	Left Ventricle	heart
6	chr11:120425200-120427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:120425200-120428200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:120425400-120427000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr11:120425400-120428200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:120425600-120426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:120425600-120426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:120425600-120426600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:120425600-120426600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:120425600-120426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:120425600-120426600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:120425600-120426600	Enhancers	Brain Substantia Nigra	brain
17	chr11:120425600-120426600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:120425600-120426600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr11:120425600-120426800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr11:120425600-120426800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:120425600-120426800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:120425600-120427000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr11:120425600-120427000	Enhancers	Fetal Brain Male	brain
24	chr11:120425600-120427000	Enhancers	Fetal Kidney	kidney
25	chr11:120425600-120427000	Enhancers	Fetal Lung	lung
26	chr11:120425600-120427200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:120425600-120427400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:120425600-120427400	Enhancers	GM12878-XiMat	blood
29	chr11:120425600-120428200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:120425600-120428200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:120425600-120428200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:120425800-120426600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:120425800-120426600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:120425800-120426600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr11:120425800-120426800	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:120425800-120426800	Enhancers	Brain Hippocampus Middle	brain
37	chr11:120425800-120427000	Enhancers	Brain Anterior Caudate	brain
38	chr11:120425800-120427400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:120425800-120428000	Enhancers	Primary B cells from peripheral blood	blood
40	chr11:120425800-120428200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr11:120426000-120426600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:120426000-120426600	Enhancers	Brain Germinal Matrix	brain
43	chr11:120426000-120426800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:120426200-120426600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:120426200-120426600	Bivalent Enhancer	Placenta	Placenta
46	chr11:120426200-120426600	Enhancers	Spleen	Spleen
47	chr11:120426200-120427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:120426200-120427200	Weak transcription	Fetal Brain Female	brain
49	chr11:120426400-120426600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:120426400-120428200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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