Variant report

Variant	rs7936826
Chromosome Location	chr11:107898521-107898522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107870246..107870951-chr11:107898023..107898971,2	K562	blood:
2	chr11:107891775..107896775-chr11:107898188..107900816,4	K562	blood:
3	chr11:107897375..107899076-chr11:108535874..108537676,2	K562	blood:
4	chr11:107877700..107883106-chr11:107896645..107902018,10	K562	blood:
5	chr11:107898187..107900858-chr11:107905424..107907294,2	K562	blood:
6	chr11:107883375..107885930-chr11:107898128..107900302,2	K562	blood:

Variant related genes	Relation type
ENSG00000166266	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11212474	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212475	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11600706	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602683	1.00[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]
rs11603079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605878	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11607758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822270	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]
rs11822609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825746	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825936	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11828176	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617000	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3741053	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3781870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs4565865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58243661	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659584	1.00[JPT][hapmap]
rs7103534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107097	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119429	1.00[JPT][hapmap]
rs7125285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130647	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73555359	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73555372	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555391	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557106	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73557122	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557155	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557188	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927717	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929383	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943669	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	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
6	nsv1047984	chr11:107794729-107950746	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1040345	chr11:107824764-107924309	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7936826	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107881000-107904000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:107881000-107904800	Weak transcription	Placenta	Placenta
3	chr11:107881600-107904600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:107882200-107904800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:107882200-107904800	Weak transcription	Fetal Intestine Large	intestine
6	chr11:107882200-107907800	Weak transcription	Fetal Kidney	kidney
7	chr11:107882200-107908000	Weak transcription	A549	lung
8	chr11:107882200-107917000	Weak transcription	NH-A	brain
9	chr11:107882600-107906200	Weak transcription	Fetal Intestine Small	intestine
10	chr11:107884200-107904800	Weak transcription	HUVEC	blood vessel
11	chr11:107884400-107926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:107884400-107942000	Weak transcription	Esophagus	oesophagus
13	chr11:107884600-107901600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:107884600-107905000	Weak transcription	Brain Germinal Matrix	brain
15	chr11:107884800-107929200	Weak transcription	NHEK	skin
16	chr11:107885000-107904000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:107885000-107904200	Weak transcription	HSMM	muscle
18	chr11:107885200-107904200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:107885200-107904600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:107885200-107904800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:107885200-107906200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:107885400-107904600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:107886800-107904000	Weak transcription	Fetal Brain Female	brain
24	chr11:107887200-107904800	Weak transcription	Thymus	Thymus
25	chr11:107887600-107902400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:107888000-107903600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:107888000-107904200	Weak transcription	Liver	Liver
28	chr11:107888000-107904400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:107888600-107901000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:107888600-107903800	Weak transcription	Primary B cells from cord blood	blood
31	chr11:107888600-107905800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:107888800-107903800	Weak transcription	Fetal Thymus	thymus
33	chr11:107889000-107904000	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:107889000-107904200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:107889000-107904600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:107889200-107904600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:107890800-107903800	Weak transcription	Brain Substantia Nigra	brain
38	chr11:107890800-107926800	Weak transcription	Hela-S3	cervix
39	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:107891000-107899600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:107891000-107900800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:107891000-107903800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:107891000-107904800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:107891000-107904800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:107891000-107904800	Weak transcription	NHLF	lung
46	chr11:107891000-107965800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:107891200-107904000	Weak transcription	Lung	lung
48	chr11:107891200-107905600	Weak transcription	Osteobl	bone
49	chr11:107891200-107908000	Weak transcription	NHDF-Ad	bronchial
50	chr11:107891200-107966200	Weak transcription	Small Intestine	intestine

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