Variant report

Variant	rs11600568
Chromosome Location	chr11:120083648-120083649
allele	C/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	KAP1	chr11:120083597-120084080	HEK293	kidney:	n/a	n/a
2	MYC	chr11:120083524-120083821	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
3	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:

Variant related genes	Relation type
OAF	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000176984	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11217769	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs873059	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3322007	chr11:120079642-120084040	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120080800-120084000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:120081000-120084000	Active TSS	Fetal Kidney	kidney
3	chr11:120081000-120084200	Active TSS	Right Ventricle	heart
4	chr11:120081000-120084400	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:120081200-120083800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:120081200-120083800	Active TSS	Psoas Muscle	Psoas
7	chr11:120081200-120084000	Active TSS	Fetal Intestine Large	intestine
8	chr11:120081200-120084000	Active TSS	Left Ventricle	heart
9	chr11:120081200-120084000	Active TSS	Pancreas	Pancrea
10	chr11:120081200-120084400	Active TSS	Right Atrium	heart
11	chr11:120081200-120084600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:120082000-120083800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:120082200-120084000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:120082200-120084000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr11:120082200-120085200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:120082400-120083800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120082600-120084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:120082600-120084400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:120082600-120084400	Active TSS	Colon Smooth Muscle	Colon
20	chr11:120082800-120083800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:120082800-120083800	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:120082800-120083800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:120082800-120083800	Weak transcription	Fetal Thymus	thymus
24	chr11:120082800-120084000	Active TSS	Brain Cingulate Gyrus	brain
25	chr11:120082800-120084000	Active TSS	Colonic Mucosa	Colon
26	chr11:120082800-120084000	Enhancers	NHEK	skin
27	chr11:120082800-120084200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:120082800-120084200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:120082800-120084400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr11:120082800-120084400	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr11:120082800-120086400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:120082800-120087200	Weak transcription	Lung	lung
33	chr11:120082800-120091800	Enhancers	Placenta	Placenta
34	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:120083000-120083800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:120083000-120083800	Enhancers	Brain Substantia Nigra	brain
37	chr11:120083000-120084000	Flanking Active TSS	NH-A	brain
38	chr11:120083000-120084200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:120083000-120086400	Weak transcription	HMEC	breast
40	chr11:120083200-120083800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr11:120083200-120083800	Flanking Active TSS	Fetal Lung	lung
42	chr11:120083200-120084000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:120083200-120084000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr11:120083200-120084000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr11:120083200-120084200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:120083200-120084400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:120083200-120084400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr11:120083200-120084600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:120083200-120084800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:120083200-120085000	Flanking Active TSS	Liver	Liver

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