Variant report

Variant	rs1532584
Chromosome Location	chr11:57421345-57421346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57421331-57421696	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57415751..57417478-chr11:57419075..57422993,4	K562	blood:
2	chr11:57415734..57418167-chr11:57421184..57424253,3	K562	blood:
3	chr11:57419081..57422303-chr11:57422733..57426519,4	K562	blood:
4	chr11:57420796..57422353-chr11:57423420..57425537,2	K562	blood:

Variant related genes	Relation type
CLP1	TF binding region
YPEL4	TF binding region
ENSG00000254602	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000166793	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs525645	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637116	1.00[AMR][1000 genomes]
rs73480562	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS 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 miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57417800-57424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57417800-57424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:57418000-57424200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:57418000-57424200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:57418000-57424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:57418000-57424200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:57418000-57424400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:57418000-57424600	Weak transcription	Right Atrium	heart
9	chr11:57418000-57424600	Weak transcription	HSMM	muscle
10	chr11:57418200-57424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:57418200-57424200	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:57418200-57424400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:57418400-57424600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:57418600-57424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:57418600-57424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57418800-57424600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:57419600-57422600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:57419800-57421600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:57420200-57421400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:57420200-57421600	Weak transcription	Placenta	Placenta
21	chr11:57420200-57424200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr11:57420400-57421400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:57420400-57421400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:57420400-57421400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:57420400-57421400	Enhancers	Fetal Lung	lung
26	chr11:57420400-57424400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:57420400-57424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:57420400-57424400	Weak transcription	Thymus	Thymus
29	chr11:57420600-57421400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:57420600-57421400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:57420600-57421400	Enhancers	Primary B cells from cord blood	blood
32	chr11:57420600-57421600	Enhancers	Primary hematopoietic stem cells	blood
33	chr11:57420600-57424000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:57420600-57424000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:57420600-57424000	Weak transcription	Dnd41	blood
36	chr11:57420600-57424200	Weak transcription	Primary T cells from cord blood	blood
37	chr11:57420600-57424200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:57420600-57424200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:57420600-57424400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:57420600-57424400	Weak transcription	NHLF	lung
41	chr11:57420800-57421400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:57420800-57421400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:57420800-57421400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:57420800-57424000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:57420800-57424200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:57420800-57424200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:57420800-57424200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:57420800-57424200	Weak transcription	Adipose Nuclei	Adipose
49	chr11:57420800-57424200	Weak transcription	K562	blood
50	chr11:57420800-57424400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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