Variant report

Variant	rs73469375
Chromosome Location	chr9:86567238-86567239
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86566614..86568645-chr9:86588942..86591883,2	K562	blood:
2	chr9:86566551..86568592-chr9:86569030..86570936,2	K562	blood:
3	chr9:86562110..86564008-chr9:86566569..86568796,2	K562	blood:

Variant related genes	Relation type
ENSG00000165119	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs57364890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57371575	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57996505	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58090060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59038995	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59227663	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59962995	1.00[AMR][1000 genomes]
rs60035746	1.00[AMR][1000 genomes]
rs60639174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60889426	1.00[AMR][1000 genomes]
rs61372781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61708723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6559755	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6559759	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7035469	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7038536	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469353	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469361	1.00[AMR][1000 genomes]
rs73469367	1.00[AMR][1000 genomes]
rs73469373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469382	1.00[AMR][1000 genomes]
rs73469388	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471356	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471374	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471377	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471381	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471387	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471388	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471390	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73473366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73473369	1.00[AMR][1000 genomes]
rs73473371	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7856484	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7872631	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7875551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	esv3366490	chr9:86541369-86608868	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv1043703	chr9:86545917-86603545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86536600-86571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:86543000-86571000	Weak transcription	Esophagus	oesophagus
3	chr9:86547200-86570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:86549000-86570200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:86550200-86570400	Weak transcription	Aorta	Aorta
6	chr9:86550400-86569200	Weak transcription	Fetal Heart	heart
7	chr9:86550400-86570400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:86550600-86569000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:86550800-86568800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:86550800-86570400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:86551000-86570400	Weak transcription	Stomach Mucosa	stomach
12	chr9:86551000-86570400	Weak transcription	NH-A	brain
13	chr9:86551600-86570000	Weak transcription	Fetal Brain Male	brain
14	chr9:86551600-86570200	Weak transcription	NHEK	skin
15	chr9:86552000-86570400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:86552000-86570400	Weak transcription	Spleen	Spleen
17	chr9:86553000-86570400	Weak transcription	Colonic Mucosa	Colon
18	chr9:86553600-86570000	Strong transcription	Fetal Stomach	stomach
19	chr9:86553800-86569800	Weak transcription	Hela-S3	cervix
20	chr9:86554400-86570400	Weak transcription	Psoas Muscle	Psoas
21	chr9:86554600-86570200	Weak transcription	Brain Substantia Nigra	brain
22	chr9:86554800-86570400	Weak transcription	Pancreas	Pancrea
23	chr9:86554800-86570600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:86555400-86570200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:86555600-86570200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr9:86556000-86570200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:86556000-86571000	Weak transcription	Gastric	stomach
28	chr9:86556200-86570400	Weak transcription	HSMMtube	muscle
29	chr9:86557000-86571000	Weak transcription	Lung	lung
30	chr9:86557400-86570000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr9:86557400-86570400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:86557600-86570200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr9:86557800-86570400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr9:86557800-86570400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:86558000-86570000	Weak transcription	Dnd41	blood
36	chr9:86558000-86570200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:86558000-86570200	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:86558000-86570400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr9:86558000-86571000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr9:86558400-86570200	Weak transcription	Primary T cells from cord blood	blood
41	chr9:86558600-86570200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr9:86558600-86570200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:86558600-86570400	Weak transcription	Brain Angular Gyrus	brain
44	chr9:86559200-86570000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:86559400-86570200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr9:86559400-86570200	Weak transcription	Fetal Brain Female	brain
47	chr9:86559800-86568800	Weak transcription	Fetal Lung	lung
48	chr9:86559800-86570200	Weak transcription	Primary B cells from cord blood	blood
49	chr9:86559800-86570200	Weak transcription	NHDF-Ad	bronchial
50	chr9:86560000-86570000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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