Variant report

Variant	rs546624088
Chromosome Location	chr11:57480925-57480926
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:57478908-57481423	Hela-S3	cervix:	n/a	n/a
2	WRNIP1	chr11:57479691-57481391	GM12878	blood:	n/a	n/a
3	UBTF	chr11:57480741-57480931	K562	blood:	n/a	n/a
4	MXI1	chr11:57478302-57481119	SK-N-SH	brain:	n/a	n/a

No data

(count:10 , 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	chr11:57478095..57482223-chr11:57507421..57512003,5	K562	blood:
6	chr11:57478057..57480948-chr11:57506438..57510938,4	MCF-7	breast:
7	chr11:57479298..57481073-chr11:57485511..57487387,2	MCF-7	breast:
8	chr11:57478095..57481312-chr11:57507421..57511942,8	K562	blood:
9	chr11:57433936..57437289-chr11:57477964..57482818,9	K562	blood:
10	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:

No data

Variant related genes	Relation type
MED19	TF binding region
ENSG00000254732	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000213592	Chromatin interaction
ENSG00000211450	Chromatin interaction

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

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	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
8	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	chr11:57478400-57481200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:57478400-57481800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:57478600-57481000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:57478600-57481000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:57478600-57481000	Active TSS	HSMM	muscle
6	chr11:57478600-57481200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:57478600-57481200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:57478600-57481400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:57478600-57481600	Active TSS	K562	blood
10	chr11:57478600-57481800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:57478800-57481000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:57478800-57481000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:57478800-57481000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:57478800-57481000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:57478800-57481000	Active TSS	Aorta	Aorta
16	chr11:57478800-57481000	Active TSS	Fetal Kidney	kidney
17	chr11:57478800-57481200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:57478800-57481200	Active TSS	Ovary	ovary
19	chr11:57478800-57481200	Active TSS	A549	lung
20	chr11:57478800-57482000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:57478800-57482400	Active TSS	GM12878-XiMat	blood
22	chr11:57479000-57481000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr11:57479000-57481000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57479000-57481000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:57479000-57481000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:57479000-57481000	Active TSS	Fetal Intestine Large	intestine
27	chr11:57479000-57481000	Active TSS	Fetal Intestine Small	intestine
28	chr11:57479000-57481000	Active TSS	Left Ventricle	heart
29	chr11:57479000-57481000	Active TSS	Pancreas	Pancrea
30	chr11:57479000-57481000	Active TSS	Psoas Muscle	Psoas
31	chr11:57479000-57481000	Active TSS	Small Intestine	intestine
32	chr11:57479000-57481000	Active TSS	Hela-S3	cervix
33	chr11:57479000-57481200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr11:57479000-57481200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:57479000-57481200	Active TSS	Gastric	stomach
36	chr11:57479000-57481200	Active TSS	HMEC	breast
37	chr11:57479000-57481600	Active TSS	Right Ventricle	heart
38	chr11:57479200-57481000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:57479200-57481200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:57479200-57481200	Active TSS	Fetal Muscle Trunk	muscle
41	chr11:57479200-57481200	Active TSS	Stomach Mucosa	stomach
42	chr11:57479200-57481400	Active TSS	Esophagus	oesophagus
43	chr11:57479200-57481600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:57479200-57481600	Active TSS	Right Atrium	heart
45	chr11:57480000-57481200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:57480200-57481000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr11:57480200-57481400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr11:57480200-57481400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr11:57480200-57481400	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr11:57480200-57481600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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