Variant report

Variant	rs16969113
Chromosome Location	chr15:39785073-39785074
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39784312..39786766-chr15:39790044..39793415,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16952148	1.00[AMR][1000 genomes]
rs16969021	1.00[AMR][1000 genomes]
rs16969023	1.00[AMR][1000 genomes]
rs16969030	1.00[AMR][1000 genomes]
rs16969032	1.00[AMR][1000 genomes]
rs16969052	1.00[AMR][1000 genomes]
rs16969077	1.00[AMR][1000 genomes]
rs16969097	1.00[AMR][1000 genomes]
rs16969108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969537	1.00[AMR][1000 genomes]
rs4091683	1.00[AMR][1000 genomes]
rs4641712	1.00[AMR][1000 genomes]
rs60614142	1.00[AMR][1000 genomes]
rs60827388	1.00[AMR][1000 genomes]
rs74010137	1.00[AMR][1000 genomes]
rs8030678	1.00[AMR][1000 genomes]
rs9672485	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39778400-39785200	Enhancers	Fetal Stomach	stomach
2	chr15:39778800-39788000	Weak transcription	HSMMtube	muscle
3	chr15:39779400-39788000	Weak transcription	NHLF	lung
4	chr15:39780200-39786000	Enhancers	Fetal Heart	heart
5	chr15:39780800-39786600	Enhancers	Rectal Smooth Muscle	rectum
6	chr15:39780800-39787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:39781000-39788200	Weak transcription	Right Ventricle	heart
8	chr15:39781400-39788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:39781400-39788000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:39781400-39788200	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:39781400-39792200	Weak transcription	Right Atrium	heart
12	chr15:39781800-39787800	Weak transcription	Ovary	ovary
13	chr15:39782200-39789000	Weak transcription	Fetal Kidney	kidney
14	chr15:39783000-39788000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:39783600-39786400	Weak transcription	Left Ventricle	heart
16	chr15:39783600-39788800	Weak transcription	Aorta	Aorta
17	chr15:39784400-39785800	Weak transcription	Fetal Lung	lung
18	chr15:39784400-39788000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:39784600-39785600	Weak transcription	K562	blood
20	chr15:39785000-39786400	Weak transcription	GM12878-XiMat	blood
21	chr15:39785000-39788000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:39785000-39788400	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:39785000-39788800	Weak transcription	Pancreas	Pancrea

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