Variant report

Variant	rs11172327
Chromosome Location	chr12:58161660-58161661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58158046-58161920	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:58158336-58161663	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:58158332-58161738	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:58158106-58161784	A549	lung:	n/a	n/a
5	POLR2A	chr12:58159629-58161816	K562	blood:	n/a	n/a
6	POLR2A	chr12:58158210-58161764	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr12:58159584-58162095	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:58159992-58161892	PFSK-1	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57913915..57915790-chr12:58160271..58161971,2	K562	blood:
2	chr12:57912185..57914600-chr12:58159460..58162214,2	MCF-7	breast:
3	chr12:58112950..58114640-chr12:58160149..58162147,2	K562	blood:
4	chr1:149858596..149860506-chr12:58159448..58161773,2	MCF-7	breast:

No data

Variant related genes	Relation type
CYP27B1	TF binding region
METTL21B	TF binding region
ENSG00000135506	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000208028	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11172322	0.83[LWK][hapmap];1.00[MEX][hapmap]
rs11172325	0.83[LWK][hapmap];1.00[MEX][hapmap]
rs11172341	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302696	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13353074	1.00[AMR][1000 genomes]
rs17119958	0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8176348	1.00[MEX][hapmap]
rs8176353	0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
7	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11172327	MEST	trans	lymphoblastoid	seeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58154000-58162200	Weak transcription	Dnd41	blood
2	chr12:58157000-58162200	Weak transcription	Hela-S3	cervix
3	chr12:58159400-58162000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr12:58160400-58162200	Weak transcription	HepG2	liver
5	chr12:58160800-58162200	Weak transcription	Spleen	Spleen
6	chr12:58160800-58163400	Weak transcription	GM12878-XiMat	blood
7	chr12:58160800-58164600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:58160800-58164600	Weak transcription	Right Atrium	heart
9	chr12:58160800-58165200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:58161000-58161800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:58161000-58162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:58161000-58162000	Bivalent Enhancer	Placenta	Placenta
13	chr12:58161000-58162200	Weak transcription	Aorta	Aorta
14	chr12:58161000-58162200	Weak transcription	Gastric	stomach
15	chr12:58161000-58162400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:58161000-58162400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:58161000-58162600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:58161000-58162600	Weak transcription	Left Ventricle	heart
19	chr12:58161000-58163000	Weak transcription	Ovary	ovary
20	chr12:58161000-58163000	Weak transcription	Psoas Muscle	Psoas
21	chr12:58161000-58164800	Weak transcription	Right Ventricle	heart
22	chr12:58161000-58165200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:58161000-58165200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:58161000-58165200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:58161200-58161800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:58161200-58161800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr12:58161200-58161800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:58161200-58161800	Weak transcription	Pancreas	Pancrea
29	chr12:58161200-58162200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:58161200-58162200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:58161200-58162200	Weak transcription	Brain Anterior Caudate	brain
32	chr12:58161200-58162200	Weak transcription	Lung	lung
33	chr12:58161200-58162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:58161200-58162400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:58161200-58162400	Weak transcription	HSMM	muscle
36	chr12:58161200-58164600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:58161200-58164800	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:58161200-58164800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:58161200-58165000	Weak transcription	NH-A	brain
40	chr12:58161200-58165200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:58161400-58161800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:58161400-58161800	Enhancers	HMEC	breast
43	chr12:58161400-58162000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:58161400-58162000	Weak transcription	Primary B cells from cord blood	blood
45	chr12:58161400-58162000	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:58161400-58162000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:58161400-58162200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:58161400-58162200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:58161400-58162200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:58161400-58162200	Weak transcription	NHLF	lung

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