Variant report

Variant	rs28377956
Chromosome Location	chr2:183490807-183490808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10173603	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10184790	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10497608	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10497609	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10754995	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10803958	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10803959	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10803960	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10931025	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10931026	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11682887	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11893013	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12693314	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13392185	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13403435	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13410733	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1405946	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16823439	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1918702	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1949999	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2141269	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6720813	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6720841	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6749127	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72625272	0.80[ASN][1000 genomes]
rs7560943	0.91[ASN][1000 genomes]
rs7577378	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7587971	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7590115	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7590242	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[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	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	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv999603	chr2:183465151-183551522	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv962120	chr2:183486499-183495489	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3355710	chr2:183490532-183493080	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3398402	chr2:183490657-183493005	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183486000-183495800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:183486200-183495600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:183487000-183493600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:183490000-183491000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:183490000-183491400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:183490000-183491400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:183490200-183491400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:183490400-183491000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:183490400-183491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:183490600-183491000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:183490600-183491200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:183490600-183493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:183490800-183491000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:183490800-183491400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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