Variant report

Variant	rs703817
Chromosome Location	chr12:57489828-57489829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57080752..57082860-chr12:57489722..57492720,2	K562	blood:

Variant related genes	Relation type
ENSG00000110958	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs167769	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs324011	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs324020	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs324021	0.80[CHD][hapmap];0.83[MEX][hapmap]
rs841718	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.80[MEX][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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs703817	STAT6	cis	Frontal Cortex	GTEx
rs703817	STAT6	Cis_1M	lymphoblastoid	RTeQTL
rs703817	FIGNL2	cis	cerebellum	SCAN
rs703817	STAT6	cis	multi-tissue	Pritchard
rs703817	STAT6	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57483800-57492000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57484000-57498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:57484400-57490800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:57484400-57491000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:57484800-57490800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:57485000-57490800	Genic enhancers	Fetal Thymus	thymus
7	chr12:57485000-57491000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:57485000-57491000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr12:57485000-57491400	Strong transcription	Aorta	Aorta
10	chr12:57485200-57490000	Genic enhancers	NH-A	brain
11	chr12:57485400-57491000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:57485400-57491200	Strong transcription	Fetal Intestine Large	intestine
13	chr12:57485600-57490600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:57485800-57490000	Strong transcription	Gastric	stomach
15	chr12:57486200-57503600	Weak transcription	Fetal Brain Male	brain
16	chr12:57486600-57503800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:57486800-57491200	Weak transcription	Hela-S3	cervix
18	chr12:57487200-57490400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:57487200-57491000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:57487200-57491000	Genic enhancers	Esophagus	oesophagus
21	chr12:57487200-57491000	Genic enhancers	NHEK	skin
22	chr12:57487600-57490800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:57487600-57491000	Genic enhancers	HMEC	breast
24	chr12:57487600-57501400	Weak transcription	Right Atrium	heart
25	chr12:57487600-57503600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:57487800-57490000	Strong transcription	Brain Germinal Matrix	brain
27	chr12:57487800-57490400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:57487800-57490400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:57487800-57490400	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr12:57487800-57490600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:57487800-57490800	Genic enhancers	GM12878-XiMat	blood
32	chr12:57487800-57491000	Weak transcription	Psoas Muscle	Psoas
33	chr12:57487800-57493000	Strong transcription	Brain Hippocampus Middle	brain
34	chr12:57487800-57494400	Strong transcription	Dnd41	blood
35	chr12:57487800-57495000	Strong transcription	Thymus	Thymus
36	chr12:57488200-57490200	Weak transcription	Small Intestine	intestine
37	chr12:57488200-57490400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:57488200-57491000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:57488200-57492400	Weak transcription	Fetal Heart	heart
40	chr12:57488200-57494800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:57488400-57490000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:57488400-57490400	Strong transcription	Fetal Brain Female	brain
43	chr12:57488400-57490800	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr12:57488400-57492600	Weak transcription	Stomach Mucosa	stomach
45	chr12:57488400-57492600	Strong transcription	Spleen	Spleen
46	chr12:57488400-57493000	Genic enhancers	K562	blood
47	chr12:57488400-57494000	Strong transcription	Left Ventricle	heart
48	chr12:57488400-57494200	Strong transcription	Fetal Lung	lung
49	chr12:57488400-57494400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:57488400-57495800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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