Variant report

Variant	rs17244408
Chromosome Location	chr11:72103024-72103025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72102520..72104169-chr11:72139282..72141826,2	K562	blood:

Variant related genes	Relation type
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34246182	0.81[AMR][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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17244408	CCND1	cis	parietal	SCAN
rs17244408	KRTAP5-7	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72065000-72110800	Weak transcription	Hela-S3	cervix
2	chr11:72069400-72111400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:72073400-72103200	Weak transcription	K562	blood
4	chr11:72090200-72103200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:72090400-72123000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:72090800-72105400	Weak transcription	Left Ventricle	heart
7	chr11:72091400-72106600	Weak transcription	Aorta	Aorta
8	chr11:72091400-72106600	Weak transcription	Ovary	ovary
9	chr11:72091400-72109600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:72091400-72111400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:72091600-72119200	Weak transcription	Thymus	Thymus
12	chr11:72093800-72109400	Weak transcription	Pancreas	Pancrea
13	chr11:72095200-72103200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:72095200-72112800	Weak transcription	Fetal Stomach	stomach
15	chr11:72095600-72106600	Weak transcription	Fetal Heart	heart
16	chr11:72095800-72110600	Weak transcription	Dnd41	blood
17	chr11:72096200-72108000	Weak transcription	Primary B cells from cord blood	blood
18	chr11:72096200-72110600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:72096400-72105600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:72098200-72108800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:72099000-72106600	Weak transcription	Right Ventricle	heart
22	chr11:72099200-72103800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:72099200-72105400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:72099200-72105400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:72099200-72105600	Weak transcription	Esophagus	oesophagus
26	chr11:72099200-72105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:72099200-72105800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:72099200-72106800	Weak transcription	Adipose Nuclei	Adipose
29	chr11:72099200-72110600	Weak transcription	HSMM	muscle
30	chr11:72099200-72110800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:72099200-72111200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:72099200-72111400	Weak transcription	HSMMtube	muscle
33	chr11:72099200-72111600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:72099200-72111600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:72099200-72112800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:72099200-72112800	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:72099200-72112800	Weak transcription	Lung	lung
38	chr11:72099200-72115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:72099200-72115600	Weak transcription	NHDF-Ad	bronchial
40	chr11:72099200-72122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:72099600-72125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:72099600-72125000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:72100000-72109200	Weak transcription	Osteobl	bone
44	chr11:72100200-72111400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:72100400-72117400	Weak transcription	HMEC	breast
46	chr11:72100600-72105400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:72100600-72105400	Weak transcription	NHEK	skin
48	chr11:72101400-72106800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:72101400-72111600	Weak transcription	Gastric	stomach
50	chr11:72102000-72105400	Weak transcription	Fetal Brain Female	brain

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