Variant report

Variant	rs11822270
Chromosome Location	chr11:107957389-107957390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11212474	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11212475	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11600706	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600740	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602683	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603079	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605419	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605878	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11607758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822609	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825746	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825936	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11828176	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107675	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617000	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2234994	0.83[YRI][hapmap]
rs2235000	0.83[YRI][hapmap]
rs3741053	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3781870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4565865	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58243661	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588998	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103534	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107097	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118335	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119429	0.83[YRI][hapmap]
rs7125285	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130647	0.81[EUR][1000 genomes]
rs73555359	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73555372	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555391	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557106	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557111	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73557122	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557155	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557188	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927717	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929383	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7936826	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943669	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947408	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11822270	ACAT1	Cis_1M	lymphoblastoid	RTeQTL
rs11822270	MGC33948	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:107891000-107965800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:107891200-107966200	Weak transcription	Small Intestine	intestine
4	chr11:107896600-107962000	Weak transcription	Right Ventricle	heart
5	chr11:107902600-107974400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:107903600-107957600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:107908200-107964000	Weak transcription	Fetal Heart	heart
8	chr11:107908400-107980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:107923800-107965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:107928200-107962000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:107928200-107985200	Weak transcription	Psoas Muscle	Psoas
12	chr11:107935200-107957600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:107938400-107968200	Weak transcription	Hela-S3	cervix
14	chr11:107941000-107971800	Weak transcription	NHEK	skin
15	chr11:107946200-107971200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:107946600-107986000	Weak transcription	Brain Angular Gyrus	brain
17	chr11:107947600-107964800	Weak transcription	K562	blood
18	chr11:107947800-107965800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:107947800-107966000	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:107950800-107959800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:107951000-107965600	Weak transcription	HMEC	breast
22	chr11:107951200-107959000	Weak transcription	NHDF-Ad	bronchial
23	chr11:107951200-107962000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:107951200-107965600	Weak transcription	NHLF	lung
25	chr11:107951400-107965800	Weak transcription	Colonic Mucosa	Colon
26	chr11:107951600-107964000	Weak transcription	HUVEC	blood vessel
27	chr11:107953200-107991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:107953400-107962200	Weak transcription	Spleen	Spleen
29	chr11:107953400-107972000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:107953600-107959200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:107953600-107962000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:107953600-107965600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:107953600-107986000	Weak transcription	Pancreas	Pancrea
34	chr11:107953800-107960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:107953800-107961800	Weak transcription	Esophagus	oesophagus
36	chr11:107953800-107961800	Weak transcription	Lung	lung
37	chr11:107953800-107962400	Weak transcription	HSMMtube	muscle
38	chr11:107954000-107967800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:107954200-107963800	Weak transcription	A549	lung
40	chr11:107954200-107965600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:107954200-107967800	Weak transcription	HepG2	liver
42	chr11:107954400-107959600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:107954400-107959600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:107954400-107961800	Weak transcription	Brain Germinal Matrix	brain
45	chr11:107954600-107961800	Weak transcription	Left Ventricle	heart
46	chr11:107954600-107962400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:107954600-107965600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:107954600-107965600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:107954600-107965800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:107954600-107965800	Weak transcription	Brain Inferior Temporal Lobe	brain

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