Variant report

Variant	rs11057065
Chromosome Location	chr12:8208244-8208245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8178837..8181131-chr12:8206683..8209804,4	K562	blood:
2	chr12:8200360..8202446-chr12:8208101..8209875,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10846411	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072448	0.90[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2072449	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2110070	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4883479	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4883480	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11057065	C3AR1	cis	Whole Blood	GTEx
rs11057065	C3AR1	cis	lung	GTEx
rs11057065	DYRK4	cis	cerebellum	SCAN
rs11057065	NECAP1	cis	Whole Blood	GTEx
rs11057065	FOXJ2	cis	Whole Blood	GTEx
rs11057065	ANO2	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8191800-8208400	Strong transcription	Dnd41	blood
2	chr12:8192000-8208600	Strong transcription	Fetal Stomach	stomach
3	chr12:8192000-8211000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:8192200-8208400	Strong transcription	Liver	Liver
5	chr12:8192200-8208600	Strong transcription	Primary T cells from cord blood	blood
6	chr12:8192400-8208400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:8192400-8208400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:8192400-8208400	Strong transcription	Brain Hippocampus Middle	brain
9	chr12:8192400-8208400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr12:8192400-8208400	Strong transcription	Osteobl	bone
11	chr12:8192400-8208600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:8192400-8209200	Strong transcription	Adipose Nuclei	Adipose
13	chr12:8192400-8211000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:8192600-8208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:8192600-8208400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:8192600-8208400	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:8192600-8208400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:8192600-8208600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:8192600-8212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:8192800-8208400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:8192800-8208400	Strong transcription	Left Ventricle	heart
22	chr12:8192800-8208400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:8193200-8208400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:8193400-8208400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:8198400-8208400	Strong transcription	A549	lung
26	chr12:8198800-8208400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:8199000-8208400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:8199000-8208400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:8199000-8208400	Strong transcription	Colon Smooth Muscle	Colon
30	chr12:8199200-8208400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:8199200-8208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:8199200-8208400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:8199200-8208400	Strong transcription	Fetal Brain Female	brain
34	chr12:8199200-8208600	Strong transcription	Ovary	ovary
35	chr12:8199200-8208600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:8199400-8208400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr12:8199600-8208400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:8199800-8208400	Strong transcription	Brain Anterior Caudate	brain
39	chr12:8201000-8208400	Strong transcription	HSMM	muscle
40	chr12:8201000-8211200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:8201000-8211600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:8202200-8210600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:8202600-8211200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:8202800-8209400	Weak transcription	Fetal Heart	heart
45	chr12:8203000-8210200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr12:8203000-8218800	Weak transcription	HMEC	breast
47	chr12:8203200-8210800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:8203400-8209000	Weak transcription	HepG2	liver
49	chr12:8203400-8217400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:8204600-8208400	Strong transcription	Primary B cells from peripheral blood	blood

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