Variant report

Variant	rs184172
Chromosome Location	chr12:50316439-50316440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50316423..50318171-chr12:50364926..50367311,2	K562	blood:
2	chr12:50315990..50318398-chr12:50322929..50325174,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP2-1	chr12:50315709-50317464	XLOC_009748
2	lnc-AQP2-1	chr12:50315709-50317464	ENSG00000257771

Variant related genes	Relation type
ENSG00000086159	Chromatin interaction
ENSG00000257771	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs12312614	0.93[ASN][1000 genomes]
rs12422575	0.91[ASN][1000 genomes]
rs12424035	0.92[ASN][1000 genomes]
rs12424404	0.86[ASN][1000 genomes]
rs12426614	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12426750	0.93[ASN][1000 genomes]
rs12427024	0.87[ASN][1000 genomes]
rs12427051	0.87[ASN][1000 genomes]
rs17124131	0.93[ASN][1000 genomes]
rs2276188	1.00[GIH][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs2298640	0.93[ASN][1000 genomes]
rs2298641	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs394682	0.88[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs58494052	0.93[ASN][1000 genomes]
rs59862432	0.91[ASN][1000 genomes]
rs61416142	0.93[ASN][1000 genomes]
rs72644872	0.91[ASN][1000 genomes]
rs72644873	0.92[ASN][1000 genomes]
rs72644874	0.96[ASN][1000 genomes]
rs72644875	0.96[ASN][1000 genomes]
rs72644876	0.97[ASN][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription 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 miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
7	nsv558836	chr12:50290023-50316439	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs184172	FKBP11	cis	cerebellum	SCAN
rs184172	LASS5	cis	cerebellum	SCAN
rs184172	LASS5	cis	parietal	SCAN
rs184172	C12orf54	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50304200-50319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:50311600-50319200	Weak transcription	Fetal Brain Male	brain
3	chr12:50313400-50320000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:50314800-50317000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:50314800-50325000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:50315600-50316600	Enhancers	Stomach Smooth Muscle	stomach
7	chr12:50315600-50317400	Enhancers	Right Ventricle	heart
8	chr12:50315600-50318800	Enhancers	Right Atrium	heart
9	chr12:50315800-50317200	Enhancers	Pancreas	Pancrea
10	chr12:50315800-50318200	Enhancers	Left Ventricle	heart
11	chr12:50315800-50319400	Enhancers	Adipose Nuclei	Adipose
12	chr12:50316000-50317200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr12:50316000-50317200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:50316000-50318200	Enhancers	Ovary	ovary
15	chr12:50316000-50318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:50316000-50318600	Weak transcription	Esophagus	oesophagus
17	chr12:50316000-50319000	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:50316000-50319400	Enhancers	Fetal Heart	heart
19	chr12:50316000-50319600	Enhancers	Fetal Muscle Leg	muscle
20	chr12:50316200-50316600	Enhancers	Colon Smooth Muscle	Colon
21	chr12:50316200-50316600	Enhancers	Lung	lung
22	chr12:50316200-50317200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:50316200-50321600	Weak transcription	Hela-S3	cervix
24	chr12:50316400-50316600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:50316400-50316600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:50316400-50317200	Enhancers	Osteobl	bone

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