Variant report

Variant	rs58060278
Chromosome Location	chr12:60140595-60140596
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11173128	1.00[AMR][1000 genomes]
rs12296723	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12299629	0.84[AFR][1000 genomes]
rs12307550	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12317292	0.82[AFR][1000 genomes]
rs17122995	0.93[AFR][1000 genomes]
rs56017517	1.00[EUR][1000 genomes]
rs56980926	1.00[AMR][1000 genomes]
rs7312127	1.00[AMR][1000 genomes]
rs73354417	1.00[EUR][1000 genomes]
rs73358620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73358624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095773	1.00[AMR][1000 genomes]
rs74095777	1.00[AMR][1000 genomes]
rs74095781	1.00[AMR][1000 genomes]
rs74095784	1.00[AMR][1000 genomes]
rs74095785	1.00[AMR][1000 genomes]
rs74095794	1.00[AMR][1000 genomes]
rs7966802	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7971766	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7977969	1.00[AMR][1000 genomes];1.00[EUR][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:28 , 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	chr12:60128200-60143000	Weak transcription	Gastric	stomach
9	chr12:60130800-60142800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
12	chr12:60132400-60165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:60136400-60142800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:60137400-60161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:60137800-60141000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:60138000-60141200	Weak transcription	Ovary	ovary
17	chr12:60138000-60147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:60138400-60141800	Strong transcription	Primary B cells from cord blood	blood
19	chr12:60138600-60168400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:60138800-60141600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:60138800-60141600	Weak transcription	Right Ventricle	heart
22	chr12:60138800-60142200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:60138800-60142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:60138800-60143200	Weak transcription	Left Ventricle	heart
25	chr12:60138800-60173200	Weak transcription	Aorta	Aorta
26	chr12:60139000-60144600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:60139400-60141800	Weak transcription	GM12878-XiMat	blood
28	chr12:60140000-60141200	Strong transcription	Primary T cells from cord blood	blood

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