Variant report

Variant	rs7291390
Chromosome Location	chr22:33024596-33024597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:33016718..33020351-chr22:33021844..33025503,4	K562	blood:
2	chr22:32970218..32972099-chr22:33022600..33024934,2	MCF-7	breast:
3	chr22:33024320..33026626-chr22:33029132..33033030,5	MCF-7	breast:
4	chr22:32955831..32960274-chr22:33021346..33026373,8	MCF-7	breast:
5	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:
6	chr22:33023061..33025113-chr22:33196015..33199255,3	MCF-7	breast:
7	chr22:33021627..33024969-chr22:33195694..33198618,3	MCF-7	breast:
8	22:32920308-32927723..22:33024278-33030812	Hela-S3	cervix:
9	chr22:32955723..32958246-chr22:33022989..33024633,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction
ENSG00000251890	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12166424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13340088	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs13340089	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs16990867	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373783	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55742512	0.88[EUR][1000 genomes]
rs55771461	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs55904255	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56315097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58007110	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs58659637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62232754	0.83[AFR][1000 genomes]
rs7284915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290002	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290248	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7291935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881763	0.94[EUR][1000 genomes]
rs73881769	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881771	1.00[EUR][1000 genomes]
rs8140105	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8140208	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9619279	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619282	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9621511	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9621512	0.90[AFR][1000 genomes];0.94[AMR][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	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
2	chr22:33017000-33025800	Enhancers	Spleen	Spleen
3	chr22:33017000-33027200	Enhancers	Placenta	Placenta
4	chr22:33018400-33025800	Enhancers	Adipose Nuclei	Adipose
5	chr22:33019200-33024800	Enhancers	HepG2	liver
6	chr22:33019600-33024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:33019800-33025200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:33021400-33025800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:33021800-33025200	Enhancers	Right Ventricle	heart
11	chr22:33022000-33025800	Enhancers	Fetal Muscle Leg	muscle
12	chr22:33022200-33025800	Enhancers	Fetal Muscle Trunk	muscle
13	chr22:33022200-33027000	Enhancers	Fetal Stomach	stomach
14	chr22:33022400-33024800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:33022400-33024800	Weak transcription	Small Intestine	intestine
16	chr22:33022600-33025600	Enhancers	Fetal Thymus	thymus
17	chr22:33023200-33025400	Enhancers	Fetal Kidney	kidney
18	chr22:33023400-33025600	Enhancers	Right Atrium	heart
19	chr22:33023400-33025800	Enhancers	NHLF	lung
20	chr22:33023600-33024600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:33023600-33024800	Weak transcription	Lung	lung
22	chr22:33023600-33024800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr22:33023600-33025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:33023600-33025600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr22:33023600-33025800	Enhancers	Fetal Lung	lung
26	chr22:33023600-33028800	Enhancers	Primary hematopoietic stem cells	blood
27	chr22:33023800-33024600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:33023800-33024800	Weak transcription	Hela-S3	cervix
29	chr22:33023800-33026400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:33023800-33026600	Weak transcription	Thymus	Thymus
31	chr22:33023800-33026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:33024000-33024800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:33024200-33025200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr22:33024200-33025600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:33024200-33025600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr22:33024200-33025800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:33024200-33025800	Enhancers	Liver	Liver
38	chr22:33024400-33024600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr22:33024400-33025000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr22:33024400-33025200	Enhancers	Fetal Intestine Small	intestine
41	chr22:33024400-33025400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:33024400-33025400	Enhancers	K562	blood
43	chr22:33024400-33025600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:33024400-33025600	Enhancers	Duodenum Smooth Muscle	Duodenum

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