Variant report

Variant	rs7290248
Chromosome Location	chr22:33023135-33023136
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33016718..33020351-chr22:33021844..33025503,4	K562	blood:
2	22:32920308-32927723..22:33022020-33023623	H1-hESC	embryonic stem cell:	embryo
3	chr22:32970218..32972099-chr22:33022600..33024934,2	MCF-7	breast:
4	22:33022020-33023623..22:33339333-33353583	K562	blood:
5	chr22:32955831..32960274-chr22:33021346..33026373,8	MCF-7	breast:
6	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:
7	chr22:33023061..33025113-chr22:33196015..33199255,3	MCF-7	breast:
8	chr22:33021627..33024969-chr22:33195694..33198618,3	MCF-7	breast:
9	chr22:32955723..32958246-chr22:33022989..33024633,3	MCF-7	breast:
10	22:32170492-32188129..22:33022020-33023623	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000100234	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	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs13340088	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13340089	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16990867	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373783	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55742512	0.88[EUR][1000 genomes]
rs55771461	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55904255	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56315097	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58007110	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58659637	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62232754	0.82[AFR][1000 genomes]
rs7284915	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290002	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7291390	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7291935	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73881763	0.94[EUR][1000 genomes]
rs73881769	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881771	1.00[EUR][1000 genomes]
rs8140105	0.88[AFR][1000 genomes]
rs8140208	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9619279	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619282	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9621511	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9621512	0.88[AFR][1000 genomes];0.89[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:34 , 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	chr22:33018600-33023800	Enhancers	Hela-S3	cervix
6	chr22:33019000-33023400	Weak transcription	Brain Anterior Caudate	brain
7	chr22:33019000-33023600	Enhancers	Lung	lung
8	chr22:33019200-33024800	Enhancers	HepG2	liver
9	chr22:33019600-33024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:33019800-33024400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:33019800-33025200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:33020000-33023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:33020200-33024400	Weak transcription	Fetal Intestine Small	intestine
14	chr22:33020400-33024200	Weak transcription	Liver	Liver
15	chr22:33020600-33023200	Weak transcription	Fetal Kidney	kidney
16	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon
17	chr22:33021000-33024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:33021400-33023600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr22:33021400-33025800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr22:33021800-33025200	Enhancers	Right Ventricle	heart
21	chr22:33022000-33024400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr22:33022000-33025800	Enhancers	Fetal Muscle Leg	muscle
23	chr22:33022200-33023200	Enhancers	Primary hematopoietic stem cells	blood
24	chr22:33022200-33025800	Enhancers	Fetal Muscle Trunk	muscle
25	chr22:33022200-33027000	Enhancers	Fetal Stomach	stomach
26	chr22:33022400-33023200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:33022400-33024200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:33022400-33024800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:33022400-33024800	Weak transcription	Small Intestine	intestine
30	chr22:33022600-33023400	Weak transcription	Right Atrium	heart
31	chr22:33022600-33023600	Weak transcription	Fetal Lung	lung
32	chr22:33022600-33024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr22:33022600-33025600	Enhancers	Fetal Thymus	thymus
34	chr22:33022800-33023800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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