Variant report

Variant	rs2711694
Chromosome Location	chr12:60142575-60142576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10128954	1.00[AMR][1000 genomes]
rs12315879	1.00[AMR][1000 genomes]
rs12322928	0.85[AMR][1000 genomes]
rs1617129	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693599	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693608	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693610	1.00[AMR][1000 genomes]
rs1693619	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123025	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795892	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795894	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706315	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711650	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711653	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711681	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711685	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57108311	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60529673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61052111	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73350794	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352606	1.00[AMR][1000 genomes]
rs73352609	1.00[AMR][1000 genomes]
rs73352618	1.00[AMR][1000 genomes]
rs73352638	0.85[AMR][1000 genomes]
rs9668592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60099600-60143200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:60113000-60143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:60124000-60168800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:60127800-60143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:60127800-60143200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:60128200-60143000	Weak transcription	Gastric	stomach
8	chr12:60130800-60142800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
11	chr12:60132400-60165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:60136400-60142800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:60137400-60161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:60138000-60147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:60138600-60168400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:60138800-60142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:60138800-60143200	Weak transcription	Left Ventricle	heart
18	chr12:60138800-60173200	Weak transcription	Aorta	Aorta
19	chr12:60139000-60144600	Weak transcription	Adipose Nuclei	Adipose
20	chr12:60141600-60143000	Weak transcription	Dnd41	blood
21	chr12:60141800-60161000	Weak transcription	Primary B cells from cord blood	blood

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