Variant report

Variant	rs11180944
Chromosome Location	chr12:41873322-41873323
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	chr12:41867305..41870215-chr12:41872382..41875248,2	K562	blood:

Variant related genes	Relation type
ENSG00000257228	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10219633	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10506194	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10506196	0.89[CHB][hapmap]
rs10785234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880037	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880068	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880069	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880070	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10880083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880084	0.89[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs10880085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880090	0.89[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs11180782	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11180829	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180830	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180841	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180844	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180849	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180855	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180868	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180873	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180874	1.00[CHB][hapmap]
rs11180875	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180879	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180883	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180886	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180915	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180917	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180921	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11180932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180934	0.90[ASN][1000 genomes]
rs11180935	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11180938	1.00[ASN][1000 genomes]
rs11180941	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180946	1.00[ASN][1000 genomes]
rs11180947	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11180948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11180949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11180950	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11180952	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11180953	0.97[ASN][1000 genomes]
rs11180954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180955	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11180957	0.97[ASN][1000 genomes]
rs11180959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180964	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11180970	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs11180972	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs11180973	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11180974	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11180975	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11180976	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11180978	0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11180983	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11180989	0.81[JPT][hapmap]
rs11180995	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs11180997	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs11181000	0.89[CHB][hapmap]
rs11181010	0.82[JPT][hapmap]
rs12227540	0.89[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs12228172	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12230294	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12231433	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12231803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12232019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12581707	0.86[ASN][1000 genomes]
rs12582035	0.97[ASN][1000 genomes]
rs12582204	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12582987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1379766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1458153	0.81[JPT][hapmap]
rs1458172	0.89[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs1458173	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs17129417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17129436	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs17835484	0.85[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1918230	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2125289	0.88[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2252312	0.86[ASN][1000 genomes]
rs3214027	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs725527	0.81[JPT][hapmap]
rs7299395	0.82[JPT][hapmap]
rs7968280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7969769	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7979435	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9652045	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	esv2627708	chr12:41872658-41874071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41869600-41905200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41872800-41874000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:41872800-41874400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:41873000-41873600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:41873000-41873800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:41873000-41874000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:41873000-41874000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:41873000-41874200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:41873200-41873400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:41873200-41873400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:41873200-41873600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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