Variant report

Variant	rs12296752
Chromosome Location	chr12:60135573-60135574
allele	A/C/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]
rs10083171	1.00[AMR][1000 genomes]
rs11173122	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11173143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298625	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300147	0.90[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301125	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307037	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307814	1.00[AMR][1000 genomes]
rs12307854	0.96[AFR][1000 genomes]
rs12310666	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315372	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316277	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317862	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322903	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377681	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094091	1.00[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:40 , 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	chr12:60104200-60138000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:60110200-60141400	Weak transcription	Dnd41	blood
5	chr12:60113000-60143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:60124000-60168800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:60126200-60138600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:60127800-60143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:60127800-60143200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:60128000-60139000	Weak transcription	Fetal Stomach	stomach
11	chr12:60128200-60143000	Weak transcription	Gastric	stomach
12	chr12:60128400-60138000	Weak transcription	Esophagus	oesophagus
13	chr12:60128400-60138200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:60128400-60139000	Weak transcription	Fetal Thymus	thymus
15	chr12:60128400-60140000	Weak transcription	Thymus	Thymus
16	chr12:60130600-60138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:60130800-60142800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:60131000-60135800	Weak transcription	Primary B cells from cord blood	blood
20	chr12:60131000-60135800	Weak transcription	Aorta	Aorta
21	chr12:60131000-60138000	Weak transcription	Fetal Heart	heart
22	chr12:60131000-60138000	Weak transcription	Left Ventricle	heart
23	chr12:60131000-60139000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
25	chr12:60131800-60135800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:60132400-60135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:60132400-60136200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:60132400-60136200	Weak transcription	NHLF	lung
29	chr12:60132400-60136200	Weak transcription	Osteobl	bone
30	chr12:60132400-60138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:60132400-60138200	Weak transcription	Adipose Nuclei	Adipose
32	chr12:60132400-60140200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:60132400-60165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:60132600-60135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:60132600-60135800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:60132600-60136600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:60132600-60136800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:60132600-60138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:60135200-60136200	Strong transcription	Primary T cells from cord blood	blood
40	chr12:60135400-60137800	Enhancers	NHDF-Ad	bronchial

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