Variant report

Variant	rs1545001
Chromosome Location	chr9:116933783-116933784
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116930014..116932339-chr9:116933734..116935674,2	MCF-7	breast:
2	chr9:116932183..116936074-chr9:116938591..116942808,3	K562	blood:
3	chr9:116933656..116936282-chr9:116947384..116950321,2	MCF-7	breast:
4	chr9:116930264..116933030-chr9:116933706..116935267,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF618-2	chr9:116933576-116935890	NONHSAT134370

Variant related genes	Relation type
ENSG00000196739	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1560538	0.81[EUR][1000 genomes]
rs2567707	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2808770	0.81[EUR][1000 genomes]
rs2808771	0.81[EUR][1000 genomes]
rs2808774	0.81[EUR][1000 genomes]
rs2808775	0.81[EUR][1000 genomes]
rs2808776	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2808777	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2808778	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2808779	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2808780	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2808798	0.96[AFR][1000 genomes]
rs4481685	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs730619	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
8	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
9	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
10	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
11	nsv466532	chr9:116930100-116957958	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv615232	chr9:116930100-116957958	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv466533	chr9:116930100-117248479	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	128 gene(s)	inside rSNPs	diseases
14	nsv615233	chr9:116930100-117248479	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	128 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 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	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
5	chr9:116926000-116937200	Weak transcription	Gastric	stomach
6	chr9:116926200-116934800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:116926200-116937400	Weak transcription	Right Ventricle	heart
8	chr9:116926200-116943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:116926400-116934400	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:116926400-116935200	Weak transcription	Left Ventricle	heart
11	chr9:116926400-116935400	Weak transcription	Right Atrium	heart
12	chr9:116926400-116937000	Weak transcription	Stomach Mucosa	stomach
13	chr9:116926400-116950200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:116926400-116950400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:116926600-116939400	Weak transcription	Fetal Kidney	kidney
16	chr9:116926800-116934600	Weak transcription	HMEC	breast
17	chr9:116926800-116937000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:116928800-116935600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr9:116929000-116937000	Weak transcription	HSMM	muscle
20	chr9:116929200-116934600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:116929200-116937800	Weak transcription	HUVEC	blood vessel
22	chr9:116929400-116937200	Weak transcription	HSMMtube	muscle
23	chr9:116929800-116934000	Strong transcription	Pancreas	Pancrea
24	chr9:116929800-116936000	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr9:116930000-116934800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:116930000-116938800	Genic enhancers	Fetal Muscle Leg	muscle
27	chr9:116930200-116934600	Weak transcription	Adipose Nuclei	Adipose
28	chr9:116930400-116936200	Strong transcription	A549	lung
29	chr9:116930400-116937200	Weak transcription	Lung	lung
30	chr9:116930600-116934400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr9:116930600-116937000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:116930600-116937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:116930600-116954400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:116930800-116935400	Weak transcription	Esophagus	oesophagus
35	chr9:116931000-116946400	Genic enhancers	Fetal Stomach	stomach
36	chr9:116931000-116971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:116931400-116934600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:116931800-116933800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:116932000-116933800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:116932000-116934000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:116932000-116935200	Weak transcription	Aorta	Aorta
42	chr9:116932200-116938600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:116932600-116934800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:116932600-116935000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:116932600-116935200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:116932600-116935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:116932600-116936800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:116932600-116938000	Enhancers	Fetal Thymus	thymus
49	chr9:116932800-116933800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:116932800-116934600	Weak transcription	NHDF-Ad	bronchial

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