Variant report

Variant	rs17148849
Chromosome Location	chr11:67854469-67854470
allele	A/G
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	MAFK	chr11:67854388-67854745	HepG2	liver:	n/a	chr11:67854563-67854572 chr11:67854562-67854576 chr11:67854558-67854573 chr11:67854559-67854579
2	MAFF	chr11:67854453-67854697	K562	blood:	n/a	chr11:67854556-67854574 chr11:67854562-67854576
3	MAFF	chr11:67854402-67854744	HepG2	liver:	n/a	chr11:67854556-67854574 chr11:67854562-67854576
4	MAFK	chr11:67854417-67854711	Hela-S3	cervix:	n/a	chr11:67854563-67854572 chr11:67854562-67854576 chr11:67854558-67854573 chr11:67854559-67854579
5	MAFK	chr11:67854401-67854734	HepG2	liver:	n/a	chr11:67854563-67854572 chr11:67854562-67854576 chr11:67854558-67854573 chr11:67854559-67854579
6	MAFK	chr11:67854401-67854727	IMR90	lung:	n/a	chr11:67854563-67854572 chr11:67854562-67854576 chr11:67854558-67854573 chr11:67854559-67854579
7	POLR2A	chr11:67854266-67854808	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67853936..67856496-chr11:67886644..67889004,3	MCF-7	breast:
2	chr11:67848842..67850960-chr11:67853567..67855233,2	K562	blood:
3	chr11:67848510..67851097-chr11:67851129..67856478,5	K562	blood:

Variant related genes	Relation type
CHKA	TF binding region
ENSG00000110721	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11825872	1.00[AMR][1000 genomes]
rs55886955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56907094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61329983	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505268	1.00[AFR][1000 genomes];1.00[AMR][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	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
7	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67831400-67884400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:67831600-67867000	Weak transcription	Small Intestine	intestine
4	chr11:67833800-67858200	Weak transcription	HUVEC	blood vessel
5	chr11:67838000-67867000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:67838000-67879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:67838400-67858200	Weak transcription	NH-A	brain
8	chr11:67838600-67864400	Weak transcription	Osteobl	bone
9	chr11:67839200-67870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:67839800-67873200	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:67839800-67886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:67842400-67858200	Weak transcription	Fetal Thymus	thymus
13	chr11:67842400-67859000	Weak transcription	HSMMtube	muscle
14	chr11:67842400-67867000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:67845600-67857200	Weak transcription	A549	lung
16	chr11:67846000-67858200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:67846200-67857600	Weak transcription	Fetal Heart	heart
18	chr11:67846200-67867000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:67846400-67856800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:67848400-67886400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:67848600-67857400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:67848800-67859200	Weak transcription	Aorta	Aorta
23	chr11:67848800-67861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:67848800-67865800	Weak transcription	K562	blood
25	chr11:67848800-67866200	Weak transcription	Right Ventricle	heart
26	chr11:67848800-67867000	Weak transcription	Placenta	Placenta
27	chr11:67848800-67874200	Weak transcription	Colonic Mucosa	Colon
28	chr11:67849000-67856600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:67849000-67857200	Weak transcription	Lung	lung
30	chr11:67849000-67866400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:67849000-67866800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:67849000-67867000	Weak transcription	Ovary	ovary
33	chr11:67849000-67885400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:67849200-67856600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:67849200-67856600	Weak transcription	Brain Substantia Nigra	brain
36	chr11:67849200-67857200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:67849200-67857600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:67849200-67857600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:67849200-67857800	Weak transcription	Adipose Nuclei	Adipose
40	chr11:67849200-67858200	Weak transcription	HSMM	muscle
41	chr11:67849200-67867000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:67849400-67856600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:67849400-67856600	Weak transcription	Dnd41	blood
44	chr11:67849400-67856800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:67849400-67857400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:67849400-67857400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:67849400-67858000	Weak transcription	Primary T cells from cord blood	blood
48	chr11:67849400-67858200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:67849400-67860000	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:67849400-67861400	Weak transcription	Hela-S3	cervix

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