Variant report

Variant	rs1442729
Chromosome Location	chr11:108091177-108091178
allele	A/C
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:5)
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	MXI1	chr11:108091131-108095170	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108090058..108092133-chr11:108101877..108104641,2	K562	blood:
2	chr11:108089780..108091711-chr11:108095775..108097725,2	MCF-7	breast:
3	chr11:108090010..108092398-chr11:108154692..108157090,2	K562	blood:
4	chr11:108089572..108092261-chr11:108170855..108173467,2	K562	blood:
5	chr11:107991146..107993770-chr11:108087993..108092186,3	K562	blood:

No data

Variant related genes	Relation type
ATM	TF binding region
ENSG00000075239	Chromatin interaction
ENSG00000255467	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11821345	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11823514	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2234994	0.85[AFR][1000 genomes]
rs2235000	0.82[AFR][1000 genomes]
rs2235001	0.85[AFR][1000 genomes]
rs3092856	0.85[AFR][1000 genomes]
rs4987926	0.94[AFR][1000 genomes]
rs4987929	0.94[AFR][1000 genomes]
rs4987956	0.94[AFR][1000 genomes]
rs4987968	0.88[AFR][1000 genomes]
rs7119429	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7947406	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108071000-108091600	Weak transcription	Right Atrium	heart
2	chr11:108071400-108092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:108078400-108091800	Weak transcription	HSMMtube	muscle
4	chr11:108078600-108091600	Weak transcription	Right Ventricle	heart
5	chr11:108078600-108091800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:108078600-108091800	Weak transcription	Lung	lung
7	chr11:108078600-108092200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:108078600-108092200	Weak transcription	Esophagus	oesophagus
9	chr11:108078800-108091400	Weak transcription	Adipose Nuclei	Adipose
10	chr11:108078800-108092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:108079200-108091400	Weak transcription	NH-A	brain
12	chr11:108079200-108091800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:108079200-108091800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:108079600-108091800	Weak transcription	Colonic Mucosa	Colon
15	chr11:108081400-108091800	Weak transcription	HSMM	muscle
16	chr11:108081600-108091400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:108081600-108091600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:108081800-108091600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:108081800-108091600	Weak transcription	A549	lung
20	chr11:108081800-108092200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:108082000-108091600	Weak transcription	Placenta	Placenta
22	chr11:108082200-108091800	Weak transcription	Ovary	ovary
23	chr11:108082800-108091600	Weak transcription	Fetal Kidney	kidney
24	chr11:108084000-108091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:108084000-108092600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:108084600-108091600	Weak transcription	Fetal Intestine Large	intestine
27	chr11:108084800-108091400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:108085000-108091400	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:108085000-108091400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:108085000-108091600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:108085000-108091800	Weak transcription	Fetal Stomach	stomach
32	chr11:108085200-108091200	Weak transcription	Fetal Lung	lung
33	chr11:108085200-108091800	Weak transcription	Left Ventricle	heart
34	chr11:108085200-108091800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:108085400-108091200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:108087000-108091400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr11:108088000-108091800	Weak transcription	Liver	Liver
38	chr11:108088000-108091800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:108088000-108092400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:108088800-108091200	Transcr. at gene 5' and 3'	K562	blood
41	chr11:108089000-108091200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:108089200-108091200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:108089200-108091600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:108089400-108091400	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:108089400-108091400	Transcr. at gene 5' and 3'	Dnd41	blood
46	chr11:108089400-108091800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:108089400-108091800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
48	chr11:108089400-108093000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:108089600-108091200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:108089600-108091600	Genic enhancers	Primary B cells from peripheral blood	blood

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