Variant report

Variant	rs57455496
Chromosome Location	chr2:49272442-49272443
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1553476	0.85[ASN][1000 genomes]
rs17038095	0.88[ASN][1000 genomes]
rs17038117	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17038129	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17038143	0.88[AFR][1000 genomes]
rs17823341	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72827267	0.85[ASN][1000 genomes]
rs72827268	0.82[ASN][1000 genomes]
rs72827271	0.85[ASN][1000 genomes]
rs72827273	0.85[ASN][1000 genomes]
rs72827274	0.85[ASN][1000 genomes]
rs72827275	0.85[ASN][1000 genomes]
rs73931522	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73931523	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs971830	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv874007	chr2:49102526-49321164	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv834003	chr2:49131673-49312273	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv581791	chr2:49230413-49296396	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
8	nsv874010	chr2:49230413-49393382	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv999566	chr2:49247737-49430060	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	esv3429664	chr2:49272164-49272641	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49270800-49272800	Enhancers	Fetal Kidney	kidney
2	chr2:49271400-49272600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49271400-49272600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:49271400-49273000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:49271600-49272600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:49271600-49272800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:49271600-49273000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:49271800-49272600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:49271800-49272800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:49272000-49272600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:49272200-49272600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:49272400-49276400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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