Variant report

Variant	rs441162
Chromosome Location	chr12:41998870-41998871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10082912	0.86[AFR][1000 genomes]
rs10082917	0.90[AFR][1000 genomes]
rs286980	0.96[ASN][1000 genomes]
rs286983	0.96[ASN][1000 genomes]
rs286984	0.95[ASN][1000 genomes]
rs286985	0.95[ASN][1000 genomes]
rs286986	0.95[ASN][1000 genomes]
rs287033	0.96[ASN][1000 genomes]
rs365385	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs366554	0.96[ASN][1000 genomes]
rs366921	0.96[ASN][1000 genomes]
rs366959	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs377371	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs387546	0.96[ASN][1000 genomes]
rs421995	0.96[ASN][1000 genomes]
rs452257	0.96[ASN][1000 genomes]
rs7138511	0.96[ASN][1000 genomes]

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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41993200-41999000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:41998000-42000600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:41998400-42001400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:41998600-41999200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:41998600-42001200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:41998800-41999200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:41998800-41999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:41998800-42000200	Enhancers	Fetal Lung	lung
9	chr12:41998800-42001000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:41998800-42001000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:41998800-42001200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:41998800-42001200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:41998800-42001200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:41998800-42001200	Enhancers	Fetal Kidney	kidney
15	chr12:41998800-42001400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:41998800-42001400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:41998800-42001400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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