Variant report

Variant	rs555678691
Chromosome Location	chr11:57481543-57481544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr11:57481324-57481629	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
2	chr11:57478353..57481972-chr11:57506953..57510365,5	MCF-7	breast:
3	chr11:57480551..57482263-chr11:57512925..57515700,2	K562	blood:
4	chr11:57433212..57437810-chr11:57477098..57481918,8	MCF-7	breast:
5	chr11:57481010..57482984-chr11:57566572..57568225,2	K562	blood:
6	chr11:57478095..57482223-chr11:57507421..57512003,5	K562	blood:
7	chr11:57433936..57437289-chr11:57477964..57482818,9	K562	blood:
8	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:

No data

Variant related genes	Relation type
MED19	TF binding region
ENSG00000134809	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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
5	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
6	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
7	nsv975188	chr11:57480320-57494198	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57478400-57481800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr11:57478600-57481600	Active TSS	K562	blood
3	chr11:57478600-57481800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:57478800-57482000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:57478800-57482400	Active TSS	GM12878-XiMat	blood
6	chr11:57479000-57481600	Active TSS	Right Ventricle	heart
7	chr11:57479200-57481600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:57479200-57481600	Active TSS	Right Atrium	heart
9	chr11:57480200-57481600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:57480400-57481800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr11:57480400-57481800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:57480400-57481800	Flanking Active TSS	Liver	Liver
13	chr11:57480600-57481600	Flanking Active TSS	Fetal Lung	lung
14	chr11:57480600-57481800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr11:57480600-57481800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:57480600-57481800	Flanking Active TSS	Fetal Brain Female	brain
17	chr11:57480600-57481800	Flanking Active TSS	Thymus	Thymus
18	chr11:57480600-57482000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:57480600-57482000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:57480600-57482000	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr11:57480600-57482000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:57480600-57482200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr11:57480600-57482200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr11:57480800-57481600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:57480800-57481600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:57480800-57481600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:57480800-57481600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:57480800-57481600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:57480800-57481600	Flanking Active TSS	NH-A	brain
30	chr11:57480800-57481600	Flanking Active TSS	NHLF	lung
31	chr11:57480800-57481800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr11:57480800-57481800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr11:57480800-57481800	Flanking Active TSS	Osteobl	bone
34	chr11:57480800-57482000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:57480800-57482000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:57480800-57482000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:57480800-57482000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:57480800-57482000	Flanking Active TSS	NHEK	skin
39	chr11:57480800-57482200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:57480800-57485800	Weak transcription	Lung	lung
41	chr11:57481000-57481600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:57481000-57481600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:57481000-57481600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr11:57481000-57481600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:57481000-57481600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:57481000-57481800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:57481000-57481800	Enhancers	Primary B cells from peripheral blood	blood
48	chr11:57481000-57482000	Flanking Active TSS	Hela-S3	cervix
49	chr11:57481000-57482400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:57481000-57485400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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