Variant report

Variant	rs72988507
Chromosome Location	chr11:74583427-74583428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74563617..74565503-chr11:74581945..74584615,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12805108	1.00[AFR][1000 genomes]
rs55755208	1.00[AFR][1000 genomes]
rs55772834	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72986700	0.96[EUR][1000 genomes]
rs72988510	1.00[AFR][1000 genomes]
rs72989331	1.00[AFR][1000 genomes]
rs72991248	1.00[AFR][1000 genomes]
rs72992691	1.00[AFR][1000 genomes]
rs72992693	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74562200-74595800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:74569800-74588400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:74570000-74588400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:74570600-74585600	ZNF genes & repeats	Dnd41	blood
5	chr11:74570600-74588400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr11:74570800-74584800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:74571000-74588400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr11:74571200-74584400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:74571200-74585200	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr11:74573600-74588400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:74574200-74588400	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr11:74574800-74586600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr11:74575400-74584600	ZNF genes & repeats	Brain Substantia Nigra	brain
14	chr11:74575600-74584200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:74575600-74584400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:74575600-74584800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr11:74575600-74585000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr11:74575600-74585800	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr11:74575600-74588400	ZNF genes & repeats	Liver	Liver
20	chr11:74575800-74584000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr11:74576000-74583800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr11:74576200-74586600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr11:74576400-74583800	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr11:74576400-74583800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr11:74576600-74584600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:74576600-74585000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr11:74579400-74587800	ZNF genes & repeats	Fetal Brain Female	brain
28	chr11:74579400-74588000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:74580200-74584400	ZNF genes & repeats	Placenta	Placenta
30	chr11:74580400-74583600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr11:74580400-74584200	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr11:74580400-74584200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr11:74580400-74584600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:74580400-74584800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr11:74580400-74585800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
36	chr11:74580400-74585800	ZNF genes & repeats	Fetal Stomach	stomach
37	chr11:74580400-74586600	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr11:74580600-74583600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:74580600-74583800	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr11:74580600-74583800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr11:74580600-74584000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:74580600-74584400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:74580600-74584400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr11:74580600-74584800	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr11:74580600-74585000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:74580600-74585000	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr11:74580600-74585800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
48	chr11:74580600-74586600	Weak transcription	HUVEC	blood vessel
49	chr11:74580600-74588000	ZNF genes & repeats	Left Ventricle	heart
50	chr11:74580600-74588200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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