Variant report

Variant	rs4821079
Chromosome Location	chr22:33040795-33040796
allele	C/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
ENSG00000198089	Chromatin interaction
ENSG00000185666	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs131067	1.00[JPT][hapmap]
rs1547412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972278	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749476	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754182	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5754183	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33039800-33041200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:33040000-33040800	Enhancers	Colonic Mucosa	Colon
3	chr22:33040000-33040800	Enhancers	Fetal Intestine Large	intestine
4	chr22:33040000-33041000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:33040000-33041000	Flanking Active TSS	Dnd41	blood
6	chr22:33040000-33041200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:33040000-33041200	Enhancers	Primary hematopoietic stem cells	blood
8	chr22:33040000-33041200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:33040000-33041400	Enhancers	Placenta	Placenta
10	chr22:33040200-33040800	Enhancers	Primary B cells from peripheral blood	blood
11	chr22:33040200-33040800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:33040200-33040800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr22:33040200-33040800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr22:33040200-33040800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr22:33040200-33040800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr22:33040200-33040800	Enhancers	Stomach Smooth Muscle	stomach
17	chr22:33040200-33040800	Enhancers	GM12878-XiMat	blood
18	chr22:33040200-33040800	Enhancers	HSMM	muscle
19	chr22:33040200-33040800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr22:33040200-33041000	Enhancers	Primary B cells from cord blood	blood
21	chr22:33040200-33041000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr22:33040200-33041000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr22:33040200-33041000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr22:33040200-33041000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:33040200-33041000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr22:33040200-33041000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr22:33040200-33041000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr22:33040200-33041000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:33040200-33041000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:33040200-33041000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:33040200-33041000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:33040200-33041000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr22:33040200-33041000	Enhancers	Esophagus	oesophagus
34	chr22:33040200-33041000	Enhancers	Fetal Muscle Trunk	muscle
35	chr22:33040200-33041000	Enhancers	Fetal Muscle Leg	muscle
36	chr22:33040200-33041000	Enhancers	Left Ventricle	heart
37	chr22:33040200-33041000	Enhancers	Lung	lung
38	chr22:33040200-33041000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr22:33040200-33041000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr22:33040200-33041000	Enhancers	Stomach Mucosa	stomach
41	chr22:33040200-33041000	Enhancers	Spleen	Spleen
42	chr22:33040200-33041000	Flanking Active TSS	NHEK	skin
43	chr22:33040200-33041000	Enhancers	NHLF	lung
44	chr22:33040200-33041200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:33040200-33041200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:33040200-33041200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr22:33040200-33041200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:33040200-33041200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr22:33040200-33041200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr22:33040200-33041200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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