Variant report

Variant	rs57401526
Chromosome Location	chr12:10396935-10396936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10845080	0.95[ASN][1000 genomes]
rs12578135	1.00[ASN][1000 genomes]
rs12581396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56726194	0.84[ASN][1000 genomes]
rs58690639	1.00[ASN][1000 genomes]
rs60130117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135451	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297855	1.00[ASN][1000 genomes]
rs74062115	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966462	1.00[ASN][1000 genomes]
rs9788026	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10376400-10397600	Weak transcription	Aorta	Aorta
2	chr12:10377200-10399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:10377800-10404400	Weak transcription	Left Ventricle	heart
4	chr12:10393400-10398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:10394800-10397200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:10394800-10397200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:10395000-10397200	Enhancers	Dnd41	blood
8	chr12:10395200-10397200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:10395800-10402400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:10396000-10397000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr12:10396200-10397000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr12:10396200-10397000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:10396200-10397000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:10396200-10397000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:10396200-10397000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:10396200-10397000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:10396200-10397000	Flanking Active TSS	GM12878-XiMat	blood
18	chr12:10396400-10397000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:10396400-10397000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:10396400-10397000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:10396400-10397000	Active TSS	K562	blood
22	chr12:10396400-10397200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:10396600-10397000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:10396600-10397000	Active TSS	Adipose Nuclei	Adipose
25	chr12:10396600-10397000	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:10396600-10397000	Active TSS	A549	lung
27	chr12:10396600-10397000	Flanking Active TSS	HepG2	liver
28	chr12:10396600-10397000	Flanking Active TSS	Osteobl	bone
29	chr12:10396800-10397000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:10396800-10397000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr12:10396800-10397000	Active TSS	Primary B cells from cord blood	blood
32	chr12:10396800-10397000	Enhancers	Liver	Liver
33	chr12:10396800-10397000	Enhancers	Thymus	Thymus
34	chr12:10396800-10397000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr12:10396800-10397200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:10396800-10397200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr12:10396800-10398000	Enhancers	Fetal Thymus	thymus
38	chr12:10396800-10398800	Strong transcription	Placenta	Placenta
39	chr12:10396800-10400200	Weak transcription	Right Atrium	heart

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