Variant report

Variant	rs479766
Chromosome Location	chr9:116389289-116389290
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	chr9:116387727..116389592-chr9:116393862..116395666,2	K562	blood:
2	chr9:116388280..116391769-chr9:116395247..116396966,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540599	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs569679	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632629	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637175	1.00[CEU][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666216	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680929	0.92[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116383600-116389800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:116384000-116389400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:116384200-116396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:116384400-116390400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:116385000-116389800	Enhancers	NHDF-Ad	bronchial
6	chr9:116385000-116396400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:116385600-116389600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:116385800-116394200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:116385800-116402600	Weak transcription	Stomach Mucosa	stomach
10	chr9:116386000-116395200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:116386200-116390200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:116386600-116390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:116387200-116395000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:116387400-116389400	Enhancers	Stomach Smooth Muscle	stomach
15	chr9:116387400-116394000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:116387600-116389400	Enhancers	Aorta	Aorta
17	chr9:116387600-116389400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr9:116387600-116390000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:116387600-116390200	Enhancers	Fetal Heart	heart
20	chr9:116387600-116396200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:116387800-116389400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:116387800-116396800	Weak transcription	Right Ventricle	heart
23	chr9:116388000-116389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:116388000-116390400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:116388200-116390000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:116388200-116390200	Enhancers	Fetal Stomach	stomach
27	chr9:116388200-116393600	Weak transcription	HSMMtube	muscle
28	chr9:116388200-116394000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:116388400-116393600	Weak transcription	Osteobl	bone
30	chr9:116388400-116393800	Weak transcription	HSMM	muscle
31	chr9:116388600-116389800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:116388600-116389800	Enhancers	Rectal Smooth Muscle	rectum
33	chr9:116388600-116390200	Enhancers	Colon Smooth Muscle	Colon
34	chr9:116388800-116389800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:116388800-116389800	Enhancers	Psoas Muscle	Psoas
36	chr9:116388800-116390000	Enhancers	Adipose Nuclei	Adipose
37	chr9:116389000-116389400	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr9:116389000-116389600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:116389000-116389600	Enhancers	Fetal Lung	lung
40	chr9:116389000-116389600	Enhancers	Left Ventricle	heart
41	chr9:116389000-116389800	Enhancers	Brain Hippocampus Middle	brain
42	chr9:116389000-116389800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr9:116389000-116389800	Enhancers	Right Atrium	heart
44	chr9:116389000-116390400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:116389200-116389400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:116389200-116389400	Enhancers	Brain Substantia Nigra	brain
47	chr9:116389200-116389400	Enhancers	NHLF	lung
48	chr9:116389200-116389600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:116389200-116389600	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr9:116389200-116389800	Enhancers	HUES6 Cell Line	embryonic stem cell

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