Variant report

Variant	rs5754181
Chromosome Location	chr22:33041306-33041307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:33030812-33041554..22:33452523-33459358	GM12878	blood:
2	22:31961151-31976153..22:33030812-33041554	K562	blood:
3	chr22:33040520..33042023-chr22:33043962..33046745,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1547412	0.84[AFR][1000 genomes]
rs5749476	0.84[AFR][1000 genomes]
rs5749477	0.83[ASN][1000 genomes]
rs5749478	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5754183	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33040000-33041400	Enhancers	Placenta	Placenta
2	chr22:33040200-33041800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:33040200-33041800	Enhancers	Fetal Kidney	kidney
4	chr22:33040200-33041800	Enhancers	Right Atrium	heart
5	chr22:33040200-33041800	Enhancers	HMEC	breast
6	chr22:33040200-33042200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr22:33040600-33041600	Enhancers	Adipose Nuclei	Adipose
8	chr22:33040800-33041600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:33040800-33041600	Enhancers	Fetal Thymus	thymus
10	chr22:33040800-33053400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:33040800-33054400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:33041000-33041400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:33041000-33041400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr22:33041000-33041400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr22:33041000-33041400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr22:33041000-33041600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:33041000-33041600	Enhancers	NHEK	skin
18	chr22:33041000-33041800	Enhancers	HepG2	liver
19	chr22:33041000-33044800	Weak transcription	Osteobl	bone
20	chr22:33041000-33045200	Weak transcription	Left Ventricle	heart
21	chr22:33041200-33041400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr22:33041200-33041600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr22:33041200-33041600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr22:33041200-33042800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:33041200-33044600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr22:33041200-33044600	Weak transcription	HSMMtube	muscle
27	chr22:33041200-33044800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr22:33041200-33045000	Weak transcription	Fetal Lung	lung

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