Variant report

Variant	rs12617446
Chromosome Location	chr2:183462334-183462335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183462276..183465034-chr2:183470042..183471619,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10173603	0.85[EUR][1000 genomes]
rs10184790	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10460376	0.89[ASN][1000 genomes]
rs10497608	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10497609	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10754995	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10803959	0.82[EUR][1000 genomes]
rs10803960	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10931025	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931026	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11682887	0.83[EUR][1000 genomes]
rs11893013	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693314	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13392185	0.84[EUR][1000 genomes]
rs13403435	0.83[EUR][1000 genomes]
rs13410733	0.84[EUR][1000 genomes]
rs1405946	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1527881	0.90[ASN][1000 genomes]
rs1527882	0.94[ASN][1000 genomes]
rs16823439	0.84[EUR][1000 genomes]
rs1918702	0.84[EUR][1000 genomes]
rs1949999	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1997240	0.89[ASN][1000 genomes]
rs2141269	0.84[EUR][1000 genomes]
rs4146244	0.87[ASN][1000 genomes]
rs5022567	0.89[ASN][1000 genomes]
rs56963248	0.91[ASN][1000 genomes]
rs6433981	0.80[ASN][1000 genomes]
rs6720813	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6720841	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6749127	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7557703	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7577378	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7587971	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7590115	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7590242	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875479	chr2:183442443-183482466	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv962053	chr2:183457346-183467152	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183457400-183463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:183458600-183470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183459200-183462800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:183459600-183462800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:183461200-183462400	Weak transcription	Osteobl	bone
7	chr2:183462200-183462400	Enhancers	NHDF-Ad	bronchial
8	chr2:183462200-183462600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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