Variant report

Variant	rs16951426
Chromosome Location	chr17:15280642-15280643
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	chr17:15163887..15164670-chr17:15280271..15281117,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109099	Chromatin interaction
ENSG00000265445	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12452475	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12453755	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16951377	1.00[GIH][hapmap]
rs16951398	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs16951428	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55725265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978205	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8077039	0.89[AMR][1000 genomes]
rs8077862	1.00[GIH][hapmap]

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	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription 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	31 gene(s)	inside rSNPs	diseases
6	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15280000-15282200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:15280200-15280800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:15280200-15280800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:15280200-15280800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr17:15280200-15280800	Enhancers	Fetal Intestine Large	intestine
6	chr17:15280200-15280800	Enhancers	Ovary	ovary
7	chr17:15280200-15280800	Enhancers	Rectal Smooth Muscle	rectum
8	chr17:15280200-15280800	Enhancers	HSMM	muscle
9	chr17:15280200-15280800	Active TSS	HSMMtube	muscle
10	chr17:15280200-15280800	Enhancers	NH-A	brain
11	chr17:15280200-15281000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:15280200-15281000	Enhancers	Brain Angular Gyrus	brain
13	chr17:15280200-15281200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:15280200-15281200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:15280200-15281200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:15280200-15281200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:15280200-15281200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr17:15280200-15281200	Enhancers	Pancreas	Pancrea
19	chr17:15280200-15281200	Enhancers	NHLF	lung
20	chr17:15280200-15281200	Flanking Active TSS	Osteobl	bone
21	chr17:15280200-15281400	Enhancers	HMEC	breast
22	chr17:15280200-15282000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr17:15280200-15282200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:15280200-15282400	Enhancers	Fetal Intestine Small	intestine
25	chr17:15280400-15280800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr17:15280400-15280800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:15280400-15280800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr17:15280400-15280800	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr17:15280400-15280800	Enhancers	Fetal Stomach	stomach
30	chr17:15280400-15280800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr17:15280400-15280800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr17:15280400-15280800	Enhancers	HepG2	liver
33	chr17:15280400-15281200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:15280400-15281200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr17:15280400-15281200	Enhancers	Fetal Muscle Leg	muscle
36	chr17:15280400-15281200	Enhancers	Placenta	Placenta
37	chr17:15280400-15281400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:15280600-15280800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:15280600-15280800	Enhancers	Adipose Nuclei	Adipose
40	chr17:15280600-15280800	Enhancers	Colon Smooth Muscle	Colon
41	chr17:15280600-15280800	Enhancers	Fetal Kidney	kidney
42	chr17:15280600-15280800	Enhancers	NHDF-Ad	bronchial
43	chr17:15280600-15281000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:15280600-15281000	Active TSS	Brain Cingulate Gyrus	brain
45	chr17:15280600-15281200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:15280600-15281200	Enhancers	Fetal Lung	lung
47	chr17:15280600-15281400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:15280600-15287000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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