Variant report

Variant	rs17119741
Chromosome Location	chr12:50318851-50318852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50305622..50307544-chr12:50317876..50320067,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP2-1	chr12:50318719-50318870	XLOC_009748
2	lnc-AQP2-1	chr12:50318719-50318870	XLOC_009748
3	lnc-AQP2-1	chr12:50318719-50318870	XLOC_009748
4	lnc-AQP2-1	chr12:50318719-50318870	ENSG00000257771
5	lnc-AQP2-1	chr12:50318719-50318870	ENSG00000257771
6	lnc-AQP2-1	chr12:50318783-50318870	ENSG00000257771
7	lnc-AQP2-1	chr12:50318719-50318870	NONHSAT028156
8	lnc-AQP2-1	chr12:50318718-50318870	NONHSAT028158

No data

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2232209	1.00[EUR][1000 genomes]
rs297903	1.00[EUR][1000 genomes]
rs297904	1.00[EUR][1000 genomes]
rs297908	1.00[EUR][1000 genomes]
rs297912	1.00[EUR][1000 genomes]
rs297915	1.00[EUR][1000 genomes]
rs364895	1.00[EUR][1000 genomes]
rs440721	1.00[EUR][1000 genomes]
rs487193	1.00[EUR][1000 genomes]
rs55853170	1.00[EUR][1000 genomes]
rs57423894	1.00[EUR][1000 genomes]
rs7304815	1.00[EUR][1000 genomes]
rs74089213	1.00[EUR][1000 genomes]
rs74091125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:16 , 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	chr12:50314800-50325000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:50315800-50319400	Enhancers	Adipose Nuclei	Adipose
6	chr12:50316000-50319000	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:50316000-50319400	Enhancers	Fetal Heart	heart
8	chr12:50316000-50319600	Enhancers	Fetal Muscle Leg	muscle
9	chr12:50316200-50321600	Weak transcription	Hela-S3	cervix
10	chr12:50316600-50333200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:50317200-50319200	Weak transcription	Pancreas	Pancrea
12	chr12:50317800-50320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:50318000-50319800	Enhancers	Spleen	Spleen
14	chr12:50318200-50319600	Weak transcription	Ovary	ovary
15	chr12:50318600-50319000	Enhancers	Esophagus	oesophagus
16	chr12:50318800-50326600	Weak transcription	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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