Variant report

Variant	rs1226901
Chromosome Location	chr2:168507824-168507825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10182008	0.81[EUR][1000 genomes]
rs10188463	0.84[ASN][1000 genomes]
rs1147144	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1147147	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147148	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147149	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1147151	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147155	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11883712	0.88[ASN][1000 genomes]
rs1226905	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226907	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1406665	0.89[ASN][1000 genomes]
rs1431899	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1431900	0.87[ASN][1000 genomes]
rs1653400	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1730684	0.89[ASN][1000 genomes]
rs1969581	0.89[ASN][1000 genomes]
rs2464038	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667539	0.83[ASN][1000 genomes]
rs6750406	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv583594	chr2:168461161-168597986	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1005875	chr2:168481626-168628276	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv536032	chr2:168481626-168628276	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757840	chr2:168489369-168640310	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2759100	chr2:168489369-168640310	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168503600-168508200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:168504000-168509000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168504800-168508000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:168505600-168508000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:168507400-168510400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:168507600-168508000	Enhancers	Fetal Brain Male	brain
7	chr2:168507600-168508400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:168507800-168508200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:168507800-168508200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:168507800-168509400	Enhancers	HepG2	liver

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