Variant report

Variant	rs28485979
Chromosome Location	chr11:102183877-102183878
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	IRF1	chr11:102183437-102183953	K562	blood:	n/a	chr11:102183652-102183666 chr11:102183650-102183660 chr11:102183646-102183660 chr11:102183642-102183662 chr11:102183648-102183668 chr11:102183649-102183660 chr11:102183649-102183662 chr11:102183654-102183665 chr11:102183649-102183662 chr11:102183644-102183658 chr11:102183644-102183665 chr11:102183648-102183659 chr11:102183649-102183663 chr11:102183644-102183661 chr11:102183656-102183666 chr11:102183644-102183654 chr11:102183648-102183662 chr11:102183649-102183662 chr11:102183650-102183664 chr11:102183638-102183655
2	CUX1	chr11:102183636-102183942	GM12878	blood:	n/a	n/a
3	IRF1	chr11:102182989-102184676	K562	blood:	n/a	chr11:102184334-102184347 chr11:102183652-102183666 chr11:102183650-102183660 chr11:102183646-102183660 chr11:102184335-102184345 chr11:102183642-102183662 chr11:102183648-102183668 chr11:102184329-102184346 chr11:102183649-102183660 chr11:102183649-102183662 chr11:102183654-102183665 chr11:102184334-102184345 chr11:102183649-102183662 chr11:102183644-102183658 chr11:102183644-102183665 chr11:102183648-102183659 chr11:102184331-102184348 chr11:102183649-102183663 chr11:102184334-102184347 chr11:102184334-102184347 chr11:102184335-102184349 chr11:102183644-102183661 chr11:102184334-102184346 chr11:102184331-102184345 chr11:102183656-102183666 chr11:102183644-102183654 chr11:102183648-102183662 chr11:102183649-102183662 chr11:102183650-102183664 chr11:102183638-102183655
4	RUNX3	chr11:102183867-102184400	GM12878	blood:	n/a	n/a
5	RCOR1	chr11:102183854-102184054	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:102183845-102184212	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:102183464-102184088	MCF10A-Er-Src	breast:	n/a	n/a
8	PRDM1	chr11:102183315-102184064	Hela-S3	cervix:	n/a	chr11:102183648-102183657 chr11:102183648-102183661 chr11:102183646-102183661 chr11:102183647-102183661
9	IRF1	chr11:102183328-102184052	K562	blood:	n/a	chr11:102183652-102183666 chr11:102183650-102183660 chr11:102183646-102183660 chr11:102183642-102183662 chr11:102183648-102183668 chr11:102183649-102183660 chr11:102183649-102183662 chr11:102183654-102183665 chr11:102183649-102183662 chr11:102183644-102183658 chr11:102183644-102183665 chr11:102183648-102183659 chr11:102183649-102183663 chr11:102183644-102183661 chr11:102183656-102183666 chr11:102183644-102183654 chr11:102183648-102183662 chr11:102183649-102183662 chr11:102183650-102183664 chr11:102183638-102183655
10	MAFK	chr11:102183805-102183979	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102183249..102185212-chr11:102186159..102188587,3	K562	blood:

Variant related genes	Relation type
BIRC3	TF binding region
ENSG00000271600	TF binding region
RNU6-952P	TF binding region
ENSG00000023445	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11225220	1.00[AMR][1000 genomes]
rs12278022	1.00[AMR][1000 genomes]
rs12285558	1.00[AMR][1000 genomes]
rs12291368	1.00[AMR][1000 genomes]
rs17098271	1.00[AMR][1000 genomes]
rs28480648	1.00[AMR][1000 genomes]
rs7952037	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	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102176800-102187800	Weak transcription	Pancreas	Pancrea
2	chr11:102177000-102187800	Weak transcription	Spleen	Spleen
3	chr11:102177200-102187000	Weak transcription	Colonic Mucosa	Colon
4	chr11:102178000-102184000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:102178200-102188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:102178400-102187200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:102178400-102187800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:102181800-102187200	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:102181800-102187200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:102182000-102185600	Enhancers	Small Intestine	intestine
11	chr11:102182000-102187200	Enhancers	Primary B cells from cord blood	blood
12	chr11:102182800-102184000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:102182800-102184000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:102183000-102184600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr11:102183000-102185000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:102183200-102184000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:102183200-102184000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:102183200-102184000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:102183200-102184200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:102183200-102184400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:102183200-102184400	Flanking Active TSS	Dnd41	blood
22	chr11:102183200-102184800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:102183200-102185400	Enhancers	Fetal Thymus	thymus
24	chr11:102183400-102184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:102183400-102184000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:102183400-102184000	Active TSS	Adipose Nuclei	Adipose
27	chr11:102183400-102184000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:102183400-102184000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:102183400-102184000	Active TSS	Thymus	Thymus
30	chr11:102183400-102184000	Active TSS	HepG2	liver
31	chr11:102183400-102184000	Active TSS	HMEC	breast
32	chr11:102183400-102184000	Active TSS	HSMM	muscle
33	chr11:102183400-102184000	Active TSS	HSMMtube	muscle
34	chr11:102183400-102184000	Active TSS	K562	blood
35	chr11:102183400-102184000	Active TSS	NHLF	lung
36	chr11:102183400-102184000	Active TSS	Osteobl	bone
37	chr11:102183400-102184200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:102183400-102184200	Active TSS	Brain Anterior Caudate	brain
39	chr11:102183400-102184200	Flanking Active TSS	HUVEC	blood vessel
40	chr11:102183400-102184400	Enhancers	Primary T cells from cord blood	blood
41	chr11:102183400-102184400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:102183400-102184400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr11:102183400-102184400	Active TSS	Ovary	ovary
44	chr11:102183400-102184400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr11:102183400-102184400	Active TSS	Stomach Smooth Muscle	stomach
46	chr11:102183400-102184400	Active TSS	NHDF-Ad	bronchial
47	chr11:102183400-102184600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:102183400-102184600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr11:102183400-102184600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:102183400-102184600	Active TSS	Right Atrium	heart

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