Variant report

Variant	rs73252005
Chromosome Location	chr12:10709965-10709966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2S3L.1-1	chr12:10709935-10710648	ENSG00000256039
2	lnc-EIF2S3L.1-1	chr12:10709935-10710816	XLOC_009661
3	lnc-EIF2S3L.1-1	chr12:10709642-10712295	NONHSAT026886

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11053888	0.81[AMR][1000 genomes]
rs11053890	0.81[AMR][1000 genomes]
rs11834918	0.94[AFR][1000 genomes]
rs11836109	0.91[AMR][1000 genomes]
rs11836264	0.91[AMR][1000 genomes]
rs12299672	0.81[AMR][1000 genomes]
rs12302213	0.81[AMR][1000 genomes]
rs12315090	0.81[AMR][1000 genomes]
rs12319401	0.81[AMR][1000 genomes]
rs2198964	0.81[AMR][1000 genomes]
rs55706835	0.91[AMR][1000 genomes]
rs55785135	0.91[AMR][1000 genomes]
rs56801111	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57025730	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57035205	0.91[AMR][1000 genomes]
rs57430351	0.94[AFR][1000 genomes]
rs58067632	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58677311	0.91[AMR][1000 genomes]
rs58898379	0.84[AMR][1000 genomes]
rs59613394	0.91[AMR][1000 genomes]
rs59816952	0.91[AMR][1000 genomes]
rs60124900	0.92[AFR][1000 genomes]
rs60400937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60461379	0.91[AMR][1000 genomes]
rs61345517	0.94[AFR][1000 genomes]
rs61473048	0.91[AMR][1000 genomes]
rs7303851	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73254032	0.84[AMR][1000 genomes]
rs73254038	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73264201	0.94[AFR][1000 genomes]
rs73266180	0.91[AMR][1000 genomes]
rs73266182	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73266183	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs74060455	0.91[AMR][1000 genomes]
rs7961522	0.84[AMR][1000 genomes]
rs7962734	0.91[AMR][1000 genomes]
rs7972993	0.91[AMR][1000 genomes]
rs7975390	0.84[AMR][1000 genomes]
rs7978122	0.91[AMR][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	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv898772	chr12:10622047-10722585	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv557479	chr12:10644663-10729821	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv898773	chr12:10660850-10722585	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898774	chr12:10666025-10722585	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898775	chr12:10668694-10735786	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10707800-10710000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:10707800-10710200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:10707800-10711200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:10707800-10713200	Enhancers	Dnd41	blood
5	chr12:10709200-10712200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:10709600-10710200	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr12:10709600-10710600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:10709600-10710800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:10709800-10710000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:10709800-10710200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:10709800-10710600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:10709800-10710600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:10709800-10710600	Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:10709800-10710800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:10709800-10710800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:10709800-10710800	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:10709800-10711000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:10709800-10711200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:10709800-10711800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr12:10709800-10712200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:10709800-10712200	Enhancers	Fetal Thymus	thymus
22	chr12:10709800-10713400	Enhancers	Thymus	Thymus

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