Variant report

Variant	rs73518278
Chromosome Location	chr9:96847599-96847600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96845151..96851769-chr9:96927067..96931565,10	K562	blood:
2	chr9:96847188..96849533-chr9:96856467..96859477,3	K562	blood:
3	chr9:96792104..96794426-chr9:96846620..96848608,2	MCF-7	breast:
4	chr9:96845151..96850974-chr9:96927067..96931575,8	K562	blood:
5	chr9:96844456..96848566-chr9:96937566..96941042,3	K562	blood:

Variant related genes	Relation type
ENSG00000199165	Chromatin interaction
ENSG00000269946	Chromatin interaction
ENSG00000199072	Chromatin interaction
ENSG00000158079	Chromatin interaction
ENSG00000269929	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56948438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56968674	1.00[AMR][1000 genomes]
rs57233442	1.00[AMR][1000 genomes]
rs58181103	0.89[AFR][1000 genomes];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]
rs59630172	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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516290	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73519488	1.00[AMR][1000 genomes]
rs73520278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73520282	1.00[AFR][1000 genomes];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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	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
3	nsv1043704	chr9:96816552-96873018	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96822400-96859800	Weak transcription	Psoas Muscle	Psoas
2	chr9:96824200-96860000	Weak transcription	Aorta	Aorta
3	chr9:96824200-96869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr9:96824400-96850000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:96828200-96847600	Weak transcription	HMEC	breast
6	chr9:96828200-96848400	Weak transcription	Fetal Intestine Large	intestine
7	chr9:96828200-96848600	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:96828200-96859600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr9:96828200-96860800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:96828200-96862000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:96828200-96868200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:96828400-96847600	Weak transcription	NHEK	skin
13	chr9:96828400-96848400	Weak transcription	NHDF-Ad	bronchial
14	chr9:96828400-96848600	Weak transcription	A549	lung
15	chr9:96829600-96872400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:96832000-96859800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:96834000-96847600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:96834000-96848600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:96834400-96859800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr9:96835200-96847600	Weak transcription	Esophagus	oesophagus
21	chr9:96835400-96861800	Weak transcription	Primary B cells from cord blood	blood
22	chr9:96837000-96857400	Weak transcription	HSMM	muscle
23	chr9:96837200-96848400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:96837200-96857400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:96837200-96858600	Weak transcription	Dnd41	blood
26	chr9:96837200-96859800	Weak transcription	Fetal Intestine Small	intestine
27	chr9:96837400-96848600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:96837400-96848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:96837400-96850600	Weak transcription	Adipose Nuclei	Adipose
30	chr9:96837400-96860200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:96837600-96859200	Weak transcription	Primary T cells from cord blood	blood
32	chr9:96837800-96848600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr9:96840200-96863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:96840400-96850000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:96842600-96858200	Weak transcription	HSMMtube	muscle
36	chr9:96843600-96857000	Weak transcription	Colonic Mucosa	Colon
37	chr9:96845000-96853400	Weak transcription	GM12878-XiMat	blood
38	chr9:96845200-96848600	Weak transcription	Stomach Mucosa	stomach
39	chr9:96845200-96857600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:96845600-96848200	Weak transcription	Fetal Heart	heart
41	chr9:96845600-96848600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:96845600-96848600	Weak transcription	Fetal Stomach	stomach
43	chr9:96845600-96848600	Weak transcription	NHLF	lung
44	chr9:96845600-96858200	Weak transcription	Right Ventricle	heart
45	chr9:96845600-96858400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:96845600-96885400	Weak transcription	Gastric	stomach
47	chr9:96845800-96847600	Active TSS	Brain Angular Gyrus	brain
48	chr9:96845800-96847600	Active TSS	Brain Hippocampus Middle	brain
49	chr9:96845800-96847600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr9:96845800-96848600	Active TSS	Brain Anterior Caudate	brain

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