Variant report

Variant	rs569679
Chromosome Location	chr9:116386438-116386439
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116383635..116386801-chr9:116393462..116397071,5	MCF-7	breast:
2	chr9:116385601..116388209-chr9:116407553..116409087,2	MCF-7	breast:
3	chr9:116385537..116387562-chr9:116409870..116412944,3	MCF-7	breast:
4	chr9:116384013..116386920-chr9:116410896..116413460,2	MCF-7	breast:
5	chr9:116378512..116381632-chr9:116384610..116387755,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227482	Chromatin interaction
ENSG00000233817	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1547694	0.96[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812400	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475129	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479766	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482318	0.81[GIH][hapmap]
rs502942	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505668	0.96[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512779	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540599	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs561305	0.82[GIH][hapmap]
rs591426	0.82[GIH][hapmap]
rs632629	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637175	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666216	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680929	0.92[CEU][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription 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 target site	12 gene(s)	inside rSNPs	diseases
4	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv615218	chr9:116365126-116391069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv466511	chr9:116374990-116397397	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv615219	chr9:116374990-116397397	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv893749	chr9:116378759-116439749	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116381800-116386600	Enhancers	NHLF	lung
2	chr9:116381800-116387200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:116382000-116386600	Enhancers	Fetal Intestine Large	intestine
4	chr9:116382600-116387800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:116382800-116387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:116383000-116387200	Enhancers	Fetal Heart	heart
7	chr9:116383200-116386600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:116383600-116387600	Weak transcription	Aorta	Aorta
9	chr9:116383600-116387800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:116383600-116389800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:116383800-116387400	Weak transcription	Psoas Muscle	Psoas
12	chr9:116383800-116389000	Weak transcription	Right Atrium	heart
13	chr9:116384000-116389400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:116384200-116386600	Enhancers	Liver	Liver
15	chr9:116384200-116386800	Enhancers	HSMM	muscle
16	chr9:116384200-116388200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr9:116384200-116389000	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:116384200-116389200	Weak transcription	Brain Substantia Nigra	brain
19	chr9:116384200-116396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:116384400-116387200	Weak transcription	Placenta	Placenta
21	chr9:116384400-116388600	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:116384400-116389000	Weak transcription	Fetal Lung	lung
23	chr9:116384400-116390400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:116384600-116387400	Enhancers	Osteobl	bone
25	chr9:116384600-116389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:116385000-116389800	Enhancers	NHDF-Ad	bronchial
27	chr9:116385000-116396400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:116385200-116387800	Enhancers	Right Ventricle	heart
29	chr9:116385400-116388000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:116385400-116388000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:116385400-116388000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:116385600-116387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:116385600-116387000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:116385600-116389600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:116385800-116386600	Bivalent Enhancer	HepG2	liver
36	chr9:116385800-116387000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:116385800-116387000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr9:116385800-116387200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:116385800-116387200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:116385800-116387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr9:116385800-116387600	Weak transcription	Lung	lung
42	chr9:116385800-116388000	Enhancers	NH-A	brain
43	chr9:116385800-116388600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:116385800-116388800	Weak transcription	Adipose Nuclei	Adipose
45	chr9:116385800-116389000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:116385800-116394200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr9:116385800-116402600	Weak transcription	Stomach Mucosa	stomach
48	chr9:116386000-116386600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr9:116386000-116387000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:116386000-116387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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