Variant report

Variant	rs703816
Chromosome Location	chr12:57497005-57497006
allele	C/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	POLR2A	chr12:57496884-57497069	K562	blood:	n/a	n/a
2	POLR2A	chr12:57496379-57497044	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:57496943-57497379	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
STAT6	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs167769	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324011	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]

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:120 , 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	chr12:57488800-57501400	Strong transcription	Adipose Nuclei	Adipose
7	chr12:57488800-57502400	Strong transcription	Fetal Stomach	stomach
8	chr12:57489000-57503600	Weak transcription	Brain Angular Gyrus	brain
9	chr12:57489400-57501400	Strong transcription	Lung	lung
10	chr12:57489400-57501600	Strong transcription	Ovary	ovary
11	chr12:57489600-57500200	Weak transcription	Fetal Kidney	kidney
12	chr12:57490000-57497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:57490000-57497800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:57490000-57503800	Weak transcription	NH-A	brain
15	chr12:57490000-57504000	Weak transcription	Brain Germinal Matrix	brain
16	chr12:57490400-57503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:57491000-57497600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:57491000-57497800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:57491000-57498000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:57491000-57501400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:57492600-57500400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:57492800-57499600	Weak transcription	Fetal Heart	heart
23	chr12:57493000-57503200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:57493000-57503400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:57493200-57497600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:57493200-57501400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:57493200-57501400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:57493200-57501600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:57493400-57498000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:57493400-57503200	Weak transcription	HUVEC	blood vessel
31	chr12:57493600-57497800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:57493600-57498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:57493800-57497800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:57493800-57497800	Weak transcription	NHEK	skin
35	chr12:57493800-57498000	Weak transcription	HSMMtube	muscle
36	chr12:57494000-57497400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:57494000-57497800	Weak transcription	Small Intestine	intestine
38	chr12:57494000-57498000	Weak transcription	Left Ventricle	heart
39	chr12:57494000-57502600	Strong transcription	Placenta	Placenta
40	chr12:57494000-57504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:57494200-57497600	Weak transcription	HSMM	muscle
42	chr12:57494200-57497800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:57494200-57497800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:57494400-57497800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:57495600-57497200	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr12:57495600-57501000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:57495600-57501400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:57495600-57501600	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr12:57495800-57497200	Genic enhancers	Fetal Intestine Large	intestine
50	chr12:57495800-57498400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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