Variant report

Variant	rs10783813
Chromosome Location	chr12:57494360-57494361
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr12:57494111-57494562	ECC-1	luminal epithelium:	n/a	n/a
2	USF1	chr12:57494162-57494448	ECC-1	luminal epithelium:	n/a	n/a
3	USF1	chr12:57494200-57494402	K562	blood:	n/a	n/a

Variant related genes	Relation type
STAT6	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2035544	1.00[AFR][1000 genomes]
rs324015	0.87[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs324017	0.80[ASN][1000 genomes]
rs7358723	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57484000-57498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57486200-57503600	Weak transcription	Fetal Brain Male	brain
3	chr12:57486600-57503800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:57487600-57501400	Weak transcription	Right Atrium	heart
5	chr12:57487600-57503600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:57487800-57494400	Strong transcription	Dnd41	blood
7	chr12:57487800-57495000	Strong transcription	Thymus	Thymus
8	chr12:57488200-57494800	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:57488400-57494400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:57488400-57495800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:57488600-57494400	Strong transcription	Colonic Mucosa	Colon
12	chr12:57488600-57494800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:57488600-57494800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:57488600-57494800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:57488600-57495400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:57488600-57495800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:57488600-57495800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:57488600-57496600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:57488800-57494400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:57488800-57494400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:57488800-57496000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:57488800-57496600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:57488800-57501400	Strong transcription	Adipose Nuclei	Adipose
24	chr12:57488800-57502400	Strong transcription	Fetal Stomach	stomach
25	chr12:57489000-57494800	Strong transcription	Liver	Liver
26	chr12:57489000-57495600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:57489000-57495800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:57489000-57496600	Strong transcription	NHLF	lung
29	chr12:57489000-57503600	Weak transcription	Brain Angular Gyrus	brain
30	chr12:57489200-57494800	Strong transcription	Primary B cells from cord blood	blood
31	chr12:57489200-57495800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:57489400-57494600	Strong transcription	Primary T cells from cord blood	blood
33	chr12:57489400-57494800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:57489400-57501400	Strong transcription	Lung	lung
35	chr12:57489400-57501600	Strong transcription	Ovary	ovary
36	chr12:57489600-57494400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr12:57489600-57500200	Weak transcription	Fetal Kidney	kidney
38	chr12:57489800-57494400	Genic enhancers	Fetal Muscle Leg	muscle
39	chr12:57489800-57496200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:57489800-57496200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:57490000-57497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:57490000-57497800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:57490000-57503800	Weak transcription	NH-A	brain
44	chr12:57490000-57504000	Weak transcription	Brain Germinal Matrix	brain
45	chr12:57490200-57496000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:57490200-57496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:57490400-57494400	Weak transcription	Fetal Brain Female	brain
48	chr12:57490400-57496400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:57490400-57503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:57490600-57494800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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