Variant report

Variant	rs12807544
Chromosome Location	chr11:107985264-107985265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107974563..107976486-chr11:107983506..107986332,2	K562	blood:
2	chr11:107984261..107988024-chr11:107989192..107992073,3	K562	blood:
3	chr11:107984587..107986286-chr11:107991544..107993666,2	K562	blood:
4	chr11:107974288..107976486-chr11:107982960..107986332,3	K562	blood:
5	chr11:107878617..107881066-chr11:107984671..107987003,3	K562	blood:

Variant related genes	Relation type
ENSG00000075239	Chromatin interaction
ENSG00000166266	Chromatin interaction
ENSG00000255467	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10749914	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10789654	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10789655	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890814	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890815	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10890816	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890817	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11212524	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11601596	0.86[CHB][hapmap]
rs12361905	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12577790	0.86[CHB][hapmap]
rs1550608	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2356518	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4550189	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59688896	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7102368	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7123836	0.92[CEU][hapmap];0.88[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7128286	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7926222	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9666209	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9734846	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3425182	chr11:107985182-107985537	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12807544	ACAT1	cis	Thyroid	GTEx
rs12807544	ACAT1	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107946600-107986000	Weak transcription	Brain Angular Gyrus	brain
2	chr11:107953200-107991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:107953600-107986000	Weak transcription	Pancreas	Pancrea
4	chr11:107955800-107991800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:107966200-107986000	Weak transcription	Brain Substantia Nigra	brain
6	chr11:107966400-107992000	Weak transcription	Fetal Brain Male	brain
7	chr11:107966600-107986000	Weak transcription	HMEC	breast
8	chr11:107967000-107991400	Weak transcription	A549	lung
9	chr11:107968200-107986000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:107968200-107986800	Weak transcription	Colonic Mucosa	Colon
11	chr11:107968200-107992000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:107968600-107986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:107969000-107991600	Weak transcription	Hela-S3	cervix
14	chr11:107969200-107986000	Weak transcription	NHLF	lung
15	chr11:107969200-107986200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:107969200-107991800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:107970600-107991600	Weak transcription	HepG2	liver
18	chr11:107972200-107986000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:107972400-107986400	Weak transcription	NHEK	skin
20	chr11:107972400-107991400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:107972400-107991600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:107972400-107992000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:107972600-107985400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:107972600-107992200	Weak transcription	Gastric	stomach
25	chr11:107973200-107986400	Weak transcription	Ovary	ovary
26	chr11:107973400-107991800	Weak transcription	Primary T cells from cord blood	blood
27	chr11:107973600-107985600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:107973600-107985600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:107973600-107986000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:107973600-107986000	Weak transcription	NH-A	brain
31	chr11:107973600-107991600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:107973600-107991800	Weak transcription	Primary B cells from cord blood	blood
33	chr11:107973600-107991800	Weak transcription	Brain Germinal Matrix	brain
34	chr11:107973600-107991800	Weak transcription	Fetal Brain Female	brain
35	chr11:107973800-107985400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:107973800-107986000	Weak transcription	Aorta	Aorta
37	chr11:107973800-107986000	Weak transcription	Brain Anterior Caudate	brain
38	chr11:107973800-107986000	Weak transcription	Small Intestine	intestine
39	chr11:107973800-107986200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:107973800-107986400	Weak transcription	Adipose Nuclei	Adipose
41	chr11:107973800-107986600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:107973800-107991600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:107973800-107991800	Weak transcription	Lung	lung
44	chr11:107973800-107992000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:107974000-107985400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:107974000-107985600	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:107974000-107986000	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:107974200-107986000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:107974200-107991800	Weak transcription	Thymus	Thymus
50	chr11:107974600-107991800	Weak transcription	HUVEC	blood vessel

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