Variant report

Variant	rs2040438
Chromosome Location	chr22:33266478-33266479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1065314	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1427378	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1427379	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1427383	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1427384	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1543803	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1543804	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2040435	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2040436	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2040437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2267184	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28456229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2899196	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5749529	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5749531	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5749532	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5754315	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs933255	0.84[AMR][1000 genomes]
rs9621584	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[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	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1059368	chr22:33249121-33268782	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
3	chr22:33256400-33269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:33257800-33269600	Weak transcription	Fetal Intestine Small	intestine
5	chr22:33257800-33270000	Weak transcription	Fetal Intestine Large	intestine
6	chr22:33257800-33282000	Weak transcription	HepG2	liver
7	chr22:33258200-33266600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:33258400-33266800	Weak transcription	Aorta	Aorta
9	chr22:33258400-33267200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:33259000-33270800	Weak transcription	Fetal Lung	lung
11	chr22:33259400-33270200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr22:33261200-33270400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr22:33262200-33266600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:33262600-33266600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:33263200-33268600	Weak transcription	K562	blood
16	chr22:33263400-33267200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:33265200-33269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:33265200-33282000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:33265600-33287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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