Variant report

Variant	rs183476241
Chromosome Location	chr11:57418464-57418465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr11:57418176-57418664	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:57417265-57420354	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:57412201-57418679	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:57417273-57418639	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:57412861-57418587	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr11:57409804-57420281	PFSK-1	brain:	n/a	n/a
12	USF1	chr11:57418386-57418721	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF1	chr11:57418437-57418711	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57416509..57419295-chr11:57509568..57512318,2	K562	blood:
2	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
3	chr11:57417074..57418991-chr11:57424889..57426673,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC5-1	chr11:57417771-57420263	ENSG00000254602.1

No data

Variant related genes	Relation type
YPEL4	TF binding region
ENSG00000172409	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
8	esv3425337	chr11:57416201-57418749	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3417959	chr11:57416576-57418524	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57417200-57418600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:57417200-57418600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr11:57417200-57418600	Enhancers	K562	blood
4	chr11:57417400-57418800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:57417600-57418800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:57417800-57418600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:57417800-57419800	Weak transcription	Ovary	ovary
8	chr11:57417800-57420200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:57417800-57420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:57417800-57424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:57417800-57424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:57418000-57418600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:57418000-57418600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:57418000-57418600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:57418000-57419600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:57418000-57419800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:57418000-57420000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:57418000-57420000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:57418000-57420000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:57418000-57420200	Weak transcription	Primary T cells from cord blood	blood
21	chr11:57418000-57420200	Weak transcription	NHLF	lung
22	chr11:57418000-57420400	Weak transcription	Fetal Lung	lung
23	chr11:57418000-57424200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:57418000-57424200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:57418000-57424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:57418000-57424200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:57418000-57424400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:57418000-57424600	Weak transcription	Right Atrium	heart
29	chr11:57418000-57424600	Weak transcription	HSMM	muscle
30	chr11:57418200-57418600	Enhancers	Brain Germinal Matrix	brain
31	chr11:57418200-57419600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:57418200-57419600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:57418200-57419600	Weak transcription	Placenta	Placenta
34	chr11:57418200-57420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:57418200-57420000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:57418200-57420200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:57418200-57420200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:57418200-57420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:57418200-57420400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:57418200-57420600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:57418200-57424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:57418200-57424200	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:57418200-57424400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:57418400-57418600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:57418400-57418600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr11:57418400-57418800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr11:57418400-57418800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr11:57418400-57419200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:57418400-57419800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:57418400-57424600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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