Variant report

Variant	rs11280838
Chromosome Location	chr14:21099304-21099305
allele	-/GGGGAAAAG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21099127..21100989-chr14:21157446..21159704,2	MCF-7	breast:
2	chr14:21092294..21096959-chr14:21097631..21101429,5	MCF-7	breast:
3	chr14:21097679..21101869-chr14:21147175..21154055,9	MCF-7	breast:
4	chr14:21092315..21096861-chr14:21097694..21101485,4	K562	blood:
5	chr14:21095228..21097008-chr14:21097789..21099892,3	K562	blood:
6	chr14:21099258..21101515-chr14:21148252..21151491,3	K562	blood:

Variant related genes	Relation type
ENSG00000258818	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000199461	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10151309	1.00[AMR][1000 genomes]
rs2093359	1.00[AMR][1000 genomes]
rs73578028	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv901468	chr14:20997221-21149785	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21098200-21101600	Active TSS	A549	lung
2	chr14:21098200-21102000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:21098400-21099400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:21098400-21099600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr14:21098400-21099800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:21098400-21099800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:21098400-21100000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:21098400-21100400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:21098400-21101200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr14:21098400-21101600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:21098400-21102000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr14:21098400-21102000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:21098400-21102000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:21098400-21102000	Active TSS	Brain Anterior Caudate	brain
15	chr14:21098400-21102200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:21098400-21102200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr14:21098400-21102200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:21098400-21102200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:21098600-21099400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:21098600-21099400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:21098600-21099400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr14:21098600-21099400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr14:21098600-21099400	Flanking Bivalent TSS/Enh	Fetal Heart	heart
24	chr14:21098600-21099400	Flanking Active TSS	K562	blood
25	chr14:21098600-21099600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr14:21098600-21099800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr14:21098600-21099800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:21098600-21099800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr14:21098600-21099800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:21098600-21099800	Active TSS	Rectal Smooth Muscle	rectum
31	chr14:21098600-21099800	Active TSS	Right Ventricle	heart
32	chr14:21098600-21099800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr14:21098600-21099800	Active TSS	HMEC	breast
34	chr14:21098600-21099800	Active TSS	NHEK	skin
35	chr14:21098600-21100000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:21098600-21100000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:21098600-21100600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:21098600-21100600	Active TSS	Brain Cingulate Gyrus	brain
39	chr14:21098600-21100600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
40	chr14:21098600-21100600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr14:21098600-21100600	Enhancers	Small Intestine	intestine
42	chr14:21098600-21101400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr14:21098600-21101600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:21098600-21101600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:21098600-21101600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr14:21098600-21101800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr14:21098600-21102000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:21098600-21102200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:21098600-21102200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:21098600-21102400	Active TSS	H9 Cell Line	embryonic stem cell

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