Variant report

Variant	rs2706288
Chromosome Location	chr12:60138911-60138912
allele	A/C
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:38)

rs_ID	r²[population]
rs10128954	1.00[AMR][1000 genomes]
rs12315879	1.00[AMR][1000 genomes]
rs12322928	0.85[AMR][1000 genomes]
rs1617129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693608	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693610	0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1693619	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.89[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795888	1.00[MEX][hapmap]
rs1795891	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795892	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795894	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795899	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706281	0.92[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2711671	1.00[YRI][hapmap];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]
rs2711694	0.97[AFR][1000 genomes];1.00[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:4 , 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

No data

Chromatin state (count:36 , 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	chr12:60110200-60141400	Weak transcription	Dnd41	blood
4	chr12:60113000-60143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:60124000-60168800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:60127800-60143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:60127800-60143200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:60128000-60139000	Weak transcription	Fetal Stomach	stomach
9	chr12:60128200-60143000	Weak transcription	Gastric	stomach
10	chr12:60128400-60139000	Weak transcription	Fetal Thymus	thymus
11	chr12:60128400-60140000	Weak transcription	Thymus	Thymus
12	chr12:60130800-60142800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:60131000-60139000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
16	chr12:60132400-60140200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:60132400-60165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:60136200-60140000	Weak transcription	Primary T cells from cord blood	blood
19	chr12:60136400-60140400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:60136400-60142800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:60136800-60139600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:60137400-60161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:60137800-60141000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:60138000-60139000	Enhancers	Fetal Heart	heart
25	chr12:60138000-60141200	Weak transcription	Ovary	ovary
26	chr12:60138000-60147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:60138200-60139000	Strong transcription	Adipose Nuclei	Adipose
28	chr12:60138400-60141800	Strong transcription	Primary B cells from cord blood	blood
29	chr12:60138600-60168400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:60138800-60139200	Weak transcription	Esophagus	oesophagus
31	chr12:60138800-60141600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:60138800-60141600	Weak transcription	Right Ventricle	heart
33	chr12:60138800-60142200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:60138800-60142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:60138800-60143200	Weak transcription	Left Ventricle	heart
36	chr12:60138800-60173200	Weak transcription	Aorta	Aorta

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