Variant report

Variant	rs888126
Chromosome Location	chr12:11653259-11653260
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16933841	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795544	1.00[AMR][1000 genomes]
rs1795545	1.00[AMR][1000 genomes]
rs1795546	1.00[AMR][1000 genomes]
rs59368327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59748838	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59982037	1.00[AMR][1000 genomes]
rs60348652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60749635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488410	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488411	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488421	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134032	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7306390	1.00[AMR][1000 genomes]
rs7313071	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277091	1.00[AMR][1000 genomes]
rs73278920	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971836	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv557572	chr12:11575570-11693121	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv976577	chr12:11651148-11653761	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11652000-11653600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr12:11652200-11655000	Active TSS	Brain Angular Gyrus	brain
3	chr12:11652600-11655200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:11652800-11653600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:11652800-11653800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:11652800-11653800	Enhancers	Esophagus	oesophagus
7	chr12:11652800-11654000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr12:11652800-11654000	Enhancers	Fetal Brain Male	brain
9	chr12:11652800-11654000	Enhancers	Gastric	stomach
10	chr12:11652800-11654000	Enhancers	Pancreas	Pancrea
11	chr12:11652800-11654000	Enhancers	Right Ventricle	heart
12	chr12:11652800-11654200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:11652800-11654200	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr12:11653000-11653400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:11653000-11653400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr12:11653000-11653400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:11653000-11653400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:11653000-11653400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:11653000-11653400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:11653000-11653400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:11653000-11653400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:11653000-11653400	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr12:11653000-11653400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr12:11653000-11653600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr12:11653000-11653600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:11653000-11653600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr12:11653000-11653600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:11653000-11653600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr12:11653000-11653600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:11653000-11653600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:11653000-11653600	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:11653000-11653600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr12:11653000-11653600	Enhancers	Brain Substantia Nigra	brain
34	chr12:11653000-11653600	Bivalent Enhancer	Placenta	Placenta
35	chr12:11653000-11653600	Bivalent Enhancer	Fetal Stomach	stomach
36	chr12:11653000-11653600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:11653000-11653600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr12:11653000-11653800	Enhancers	Lung	lung
39	chr12:11653000-11654000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:11653000-11654000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:11653000-11654000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:11653000-11654000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:11653000-11654000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr12:11653000-11654000	Bivalent Enhancer	Fetal Thymus	thymus
45	chr12:11653200-11653400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr12:11653200-11653400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:11653200-11653400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr12:11653200-11653400	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr12:11653200-11653400	Enhancers	GM12878-XiMat	blood
50	chr12:11653200-11653600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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