Variant report

Variant	rs59630172
Chromosome Location	chr9:96903650-96903651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96896364..96898799-chr9:96902522..96904654,2	MCF-7	breast:
2	chr9:96901466..96904094-chr9:96921471..96923356,3	K562	blood:
3	chr9:96899589..96905668-chr9:96926948..96930471,6	MCF-7	breast:
4	chr9:96873433..96875351-chr9:96903210..96905278,2	MCF-7	breast:
5	chr9:96902444..96903976-chr9:96934492..96936431,2	K562	blood:
6	chr9:96899950..96905236-chr9:96927673..96930558,7	K562	blood:
7	chr9:96899950..96904180-chr9:96926741..96930558,5	K562	blood:
8	chr9:96900996..96905420-chr9:96905582..96911723,7	K562	blood:
9	chr9:96897444..96899598-chr9:96901641..96904122,3	K562	blood:
10	chr9:96899016..96906502-chr9:96926750..96931118,14	MCF-7	breast:
11	chr9:96901943..96905386-chr9:96905431..96909431,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs56948438	1.00[AMR][1000 genomes]
rs56968674	1.00[AMR][1000 genomes]
rs57233442	1.00[AMR][1000 genomes]
rs58181103	1.00[AMR][1000 genomes]
rs58459148	1.00[AMR][1000 genomes]
rs58709329	1.00[AMR][1000 genomes]
rs59050355	1.00[AMR][1000 genomes]
rs59264265	1.00[AMR][1000 genomes]
rs59541311	1.00[AMR][1000 genomes]
rs60051875	1.00[AMR][1000 genomes]
rs60230389	1.00[AMR][1000 genomes]
rs60470247	1.00[AMR][1000 genomes]
rs61384012	1.00[AMR][1000 genomes]
rs73512601	1.00[AMR][1000 genomes]
rs73514228	1.00[AMR][1000 genomes]
rs73514235	1.00[AMR][1000 genomes]
rs73514244	1.00[AMR][1000 genomes]
rs73516177	1.00[AMR][1000 genomes]
rs73516179	1.00[AMR][1000 genomes]
rs73516279	1.00[AMR][1000 genomes]
rs73516289	1.00[AMR][1000 genomes]
rs73516290	1.00[AMR][1000 genomes]
rs73517142	1.00[AMR][1000 genomes]
rs73517166	1.00[AMR][1000 genomes]
rs73517183	1.00[AMR][1000 genomes]
rs73517184	1.00[AMR][1000 genomes]
rs73518259	1.00[AMR][1000 genomes]
rs73518278	1.00[AMR][1000 genomes]
rs73518291	1.00[AMR][1000 genomes]
rs73519488	1.00[AMR][1000 genomes]
rs73520278	1.00[AMR][1000 genomes]
rs73520282	1.00[AMR][1000 genomes]
rs73521324	1.00[AMR][1000 genomes]
rs73521348	1.00[AMR][1000 genomes]
rs73522141	1.00[AMR][1000 genomes]
rs73522157	1.00[AMR][1000 genomes]
rs73522175	1.00[AMR][1000 genomes]
rs73522179	1.00[AMR][1000 genomes]
rs73522182	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96899600-96903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:96900400-96907400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:96901000-96904000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:96901200-96904600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:96901200-96904600	Enhancers	Fetal Muscle Leg	muscle
6	chr9:96901400-96905800	Enhancers	Fetal Muscle Trunk	muscle
7	chr9:96902000-96904200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:96902000-96904600	Enhancers	Fetal Stomach	stomach
9	chr9:96902200-96903800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:96902200-96903800	Enhancers	Brain Angular Gyrus	brain
11	chr9:96902200-96904200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:96902200-96904400	Enhancers	Colon Smooth Muscle	Colon
13	chr9:96902200-96904600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:96902200-96904600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:96902200-96904600	Enhancers	Lung	lung
16	chr9:96902200-96904800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:96902200-96905400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:96902400-96903800	Enhancers	Brain Substantia Nigra	brain
19	chr9:96902400-96904200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:96902400-96904200	Enhancers	Ovary	ovary
21	chr9:96902400-96904600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:96902400-96904600	Enhancers	Aorta	Aorta
23	chr9:96902400-96904600	Enhancers	Psoas Muscle	Psoas
24	chr9:96902400-96904800	Enhancers	Left Ventricle	heart
25	chr9:96902400-96904800	Enhancers	Right Ventricle	heart
26	chr9:96902600-96903800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:96902600-96903800	Enhancers	HMEC	breast
28	chr9:96902600-96904000	Enhancers	HUVEC	blood vessel
29	chr9:96902600-96904800	Enhancers	Spleen	Spleen
30	chr9:96902800-96903800	Enhancers	Brain Hippocampus Middle	brain
31	chr9:96902800-96903800	Enhancers	HSMM	muscle
32	chr9:96902800-96903800	Enhancers	K562	blood
33	chr9:96902800-96904000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:96902800-96904000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:96902800-96904000	Enhancers	A549	lung
36	chr9:96902800-96904000	Enhancers	NH-A	brain
37	chr9:96902800-96904200	Enhancers	NHLF	lung
38	chr9:96902800-96904400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:96902800-96904400	Enhancers	Fetal Lung	lung
40	chr9:96902800-96904600	Enhancers	Adipose Nuclei	Adipose
41	chr9:96902800-96904800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:96902800-96904800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:96902800-96906400	Weak transcription	Pancreas	Pancrea
44	chr9:96903000-96903800	Enhancers	NHDF-Ad	bronchial
45	chr9:96903000-96904000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:96903000-96904400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:96903000-96912000	Weak transcription	HepG2	liver
48	chr9:96903200-96903800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:96903200-96903800	Enhancers	Hela-S3	cervix
50	chr9:96903200-96904200	Enhancers	HUES6 Cell Line	embryonic stem cell

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