Variant report

Variant	rs2248539
Chromosome Location	chr11:120427007-120427008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2252489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2253154	1.00[EUR][1000 genomes]
rs2510879	1.00[EUR][1000 genomes]
rs73582205	1.00[EUR][1000 genomes]
rs73584117	1.00[EUR][1000 genomes]
rs73584140	1.00[EUR][1000 genomes]

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:36 , 50 per page) page: 1

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	chr11:120424000-120428200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:120424600-120433600	Weak transcription	Left Ventricle	heart
5	chr11:120425200-120427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:120425200-120428200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120425400-120428200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:120425600-120427200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:120425600-120427400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:120425600-120427400	Enhancers	GM12878-XiMat	blood
11	chr11:120425600-120428200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:120425600-120428200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:120425600-120428200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:120425800-120427400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:120425800-120428000	Enhancers	Primary B cells from peripheral blood	blood
16	chr11:120425800-120428200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr11:120426200-120427200	Weak transcription	Fetal Brain Female	brain
18	chr11:120426400-120428200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr11:120426400-120428200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr11:120426600-120427600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:120426600-120427800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:120426600-120432600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:120426600-120432800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:120426600-120433400	Weak transcription	Brain Substantia Nigra	brain
25	chr11:120426800-120427200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:120426800-120429600	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:120426800-120429800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:120426800-120433600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:120427000-120427200	Bivalent Enhancer	Fetal Kidney	kidney
30	chr11:120427000-120427400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:120427000-120427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:120427000-120428000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:120427000-120429600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:120427000-120429600	Weak transcription	Fetal Lung	lung
35	chr11:120427000-120431800	Weak transcription	Fetal Brain Male	brain
36	chr11:120427000-120433400	Weak transcription	Brain Anterior Caudate	brain

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