Variant report

Variant	rs4763478
Chromosome Location	chr12:10396310-10396311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10772249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10772251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10845084	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10845085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10845086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10845088	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10845089	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10845090	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10845091	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11053699	0.99[EUR][1000 genomes]
rs11053704	0.99[EUR][1000 genomes]
rs11053711	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11053712	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12370398	0.99[EUR][1000 genomes]
rs3898120	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3898122	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4237965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4329754	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55855636	0.99[EUR][1000 genomes]
rs56146423	0.99[EUR][1000 genomes]
rs56374289	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61919791	0.99[EUR][1000 genomes]
rs61919792	0.99[EUR][1000 genomes]
rs61919793	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7304038	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7309431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953558	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7978029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:32 , 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	chr12:10387200-10396800	Weak transcription	Liver	Liver
5	chr12:10392600-10396600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:10393400-10398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:10394400-10396400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:10394600-10396400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:10394800-10397200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:10394800-10397200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:10395000-10396400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:10395000-10396400	Enhancers	Fetal Thymus	thymus
13	chr12:10395000-10397200	Enhancers	Dnd41	blood
14	chr12:10395200-10397200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:10395800-10396400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:10395800-10396400	Enhancers	Thymus	Thymus
17	chr12:10395800-10402400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:10396000-10396800	Weak transcription	Placenta	Placenta
19	chr12:10396000-10397000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr12:10396200-10396400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr12:10396200-10396400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:10396200-10396600	Active TSS	HepG2	liver
23	chr12:10396200-10396800	Active TSS	Primary monocytes fromperipheralblood	blood
24	chr12:10396200-10396800	Enhancers	Primary T cells from cord blood	blood
25	chr12:10396200-10396800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:10396200-10397000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr12:10396200-10397000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:10396200-10397000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:10396200-10397000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:10396200-10397000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:10396200-10397000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:10396200-10397000	Flanking Active TSS	GM12878-XiMat	blood

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