Variant report

Variant	rs1918953
Chromosome Location	chr12:41042002-41042003
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]
rs10161138	0.83[ASN][1000 genomes]
rs10161509	0.93[ASN][1000 genomes]
rs10748148	0.82[JPT][hapmap]
rs11177582	0.89[ASN][1000 genomes]
rs11177589	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11177809	0.84[ASN][1000 genomes]
rs11178070	0.91[JPT][hapmap]
rs12296967	0.93[ASN][1000 genomes]
rs1584094	0.82[JPT][hapmap]
rs1918951	0.93[ASN][1000 genomes]
rs2405290	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3940638	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61915074	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7311914	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73267740	0.81[EUR][1000 genomes]
rs7972371	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7974939	0.84[ASN][1000 genomes]
rs935224	0.82[JPT][hapmap]
rs9669757	0.82[JPT][hapmap]

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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41040800-41042800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:41040800-41044000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:41040800-41044400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:41041000-41043600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:41041200-41042600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:41041400-41042600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:41041800-41042400	Weak transcription	Fetal Lung	lung
8	chr12:41041800-41043600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:41041800-41044200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:41042000-41042400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:41042000-41043200	Enhancers	A549	lung

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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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