Variant report

Variant	rs4588934
Chromosome Location	chr9:116926311-116926312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr9:116925821-116926486	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr9:116925553-116926681	IMR90	lung:	n/a	n/a
3	MAZ	chr9:116925543-116926838	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116870237..116871907-chr9:116924776..116927376,2	MCF-7	breast:

Variant related genes	Relation type
COL27A1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13291199	1.00[ASN][1000 genomes]
rs1469599	1.00[ASN][1000 genomes]
rs1560538	0.83[EUR][1000 genomes]
rs1864723	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1864724	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2567706	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2567707	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2567722	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2567723	1.00[ASN][1000 genomes]
rs2808770	0.83[EUR][1000 genomes]
rs2808771	0.83[EUR][1000 genomes]
rs2808774	0.82[EUR][1000 genomes]
rs2808775	0.82[EUR][1000 genomes]
rs2808796	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2808797	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2808798	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449379	1.00[ASN][1000 genomes]
rs730619	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891719	1.00[ASN][1000 genomes]
rs891722	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs919641	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466527	chr9:116907448-116933449	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615228	chr9:116907448-116933449	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv466529	chr9:116907553-116930194	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv615229	chr9:116907553-116930194	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv466530	chr9:116916931-116935660	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv615230	chr9:116916931-116935660	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv466531	chr9:116916931-116940418	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv615231	chr9:116916931-116940418	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3357134	chr9:116925431-116930729	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919000-116936600	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:116919000-116937600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116919400-116930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
6	chr9:116919800-116927000	Enhancers	Liver	Liver
7	chr9:116919800-116927200	Genic enhancers	Fetal Intestine Small	intestine
8	chr9:116921800-116931600	Weak transcription	Aorta	Aorta
9	chr9:116923000-116926800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr9:116923200-116927000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:116923600-116926400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:116923600-116926800	Enhancers	Psoas Muscle	Psoas
13	chr9:116924000-116926400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:116924000-116926400	Enhancers	Left Ventricle	heart
15	chr9:116924000-116926400	Enhancers	Stomach Mucosa	stomach
16	chr9:116924000-116926800	Genic enhancers	Fetal Stomach	stomach
17	chr9:116924000-116927000	Enhancers	Pancreas	Pancrea
18	chr9:116924200-116926800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:116924200-116927000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:116924200-116927000	Enhancers	Fetal Muscle Leg	muscle
21	chr9:116924400-116926400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:116924400-116926400	Enhancers	Placenta	Placenta
23	chr9:116924400-116926800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:116924800-116926600	Enhancers	NHDF-Ad	bronchial
25	chr9:116924800-116926800	Enhancers	Fetal Lung	lung
26	chr9:116925000-116926600	Enhancers	HepG2	liver
27	chr9:116925000-116927000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:116925400-116926400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:116925400-116926600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr9:116925400-116926800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:116925600-116926400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr9:116925600-116926400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:116925600-116926400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:116925600-116926400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:116925600-116926400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:116925600-116926400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:116925600-116926400	Enhancers	Fetal Heart	heart
38	chr9:116925600-116926600	Enhancers	HSMMtube	muscle
39	chr9:116925600-116926600	Flanking Active TSS	NHEK	skin
40	chr9:116925600-116926600	Enhancers	Osteobl	bone
41	chr9:116925600-116926800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:116925600-116926800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:116925600-116926800	Enhancers	HMEC	breast
44	chr9:116925800-116926400	Enhancers	Ovary	ovary
45	chr9:116925800-116926400	Enhancers	Right Atrium	heart
46	chr9:116925800-116926400	Enhancers	Small Intestine	intestine
47	chr9:116925800-116926600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr9:116925800-116926600	Enhancers	Adipose Nuclei	Adipose
49	chr9:116925800-116926800	Enhancers	Lung	lung
50	chr9:116925800-116927000	Enhancers	Fetal Muscle Trunk	muscle

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