Variant report

Variant	rs59671056
Chromosome Location	chr22:31556988-31556989
allele	A/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	CHD1	chr22:31555351-31557255	IMR90	lung:	n/a	n/a
2	MXI1	chr22:31555745-31557208	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr22:31555846-31557499	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31534966..31537778-chr22:31554685..31557531,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214125	TF binding region
MIR3928	TF binding region
ENSG00000100078	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11705159	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55783055	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749219	0.83[EUR][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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 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	chr22:31555400-31557000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:31555400-31557000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31555400-31557000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:31555400-31557000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:31555400-31557000	Active TSS	Liver	Liver
6	chr22:31555400-31557000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr22:31555400-31557200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:31555400-31557200	Active TSS	NHEK	skin
9	chr22:31555400-31558400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:31555600-31557000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr22:31555600-31557000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr22:31555600-31557000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:31555600-31557000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:31555600-31557000	Active TSS	Fetal Kidney	kidney
15	chr22:31555600-31557000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr22:31555600-31557000	Active TSS	Gastric	stomach
17	chr22:31555600-31557000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr22:31555600-31557000	Active TSS	A549	lung
19	chr22:31555600-31557000	Active TSS	HMEC	breast
20	chr22:31555600-31557000	Active TSS	HSMM	muscle
21	chr22:31555600-31557000	Active TSS	NHDF-Ad	bronchial
22	chr22:31555600-31557200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr22:31555600-31557200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr22:31555600-31557200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:31555600-31557200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:31555600-31557200	Active TSS	Colonic Mucosa	Colon
27	chr22:31555600-31557200	Active TSS	Left Ventricle	heart
28	chr22:31555600-31557200	Active TSS	Psoas Muscle	Psoas
29	chr22:31555600-31557200	Active TSS	HSMMtube	muscle
30	chr22:31555600-31557200	Active TSS	NHLF	lung
31	chr22:31555600-31557400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr22:31555600-31557400	Active TSS	Pancreas	Pancrea
33	chr22:31555600-31557400	Active TSS	Right Atrium	heart
34	chr22:31555600-31557600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:31555600-31557600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:31555600-31557800	Active TSS	Ovary	ovary
37	chr22:31555600-31559400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr22:31555800-31557000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr22:31555800-31557000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr22:31555800-31557000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:31555800-31557000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:31555800-31557000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:31555800-31557000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr22:31555800-31557000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:31555800-31557000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:31555800-31557000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:31555800-31557000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr22:31555800-31557000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:31555800-31557000	Active TSS	Esophagus	oesophagus
50	chr22:31555800-31557000	Active TSS	Fetal Lung	lung

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