Variant report

Variant	rs73516514
Chromosome Location	chr9:94984212-94984213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94983419..94986395-chr9:94989687..94991728,4	K562	blood:
2	chr9:94982687..94985411-chr9:95009602..95012209,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16908313	0.95[AFR][1000 genomes]
rs3847319	1.00[AMR][1000 genomes]
rs57050708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57363956	0.83[AMR][1000 genomes]
rs57537991	0.95[AFR][1000 genomes]
rs57720908	0.95[AFR][1000 genomes]
rs57829709	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59519008	0.83[AMR][1000 genomes]
rs60752945	1.00[AMR][1000 genomes]
rs60945405	1.00[AMR][1000 genomes]
rs7024757	1.00[AMR][1000 genomes]
rs7027344	1.00[AMR][1000 genomes]
rs73514486	0.83[AMR][1000 genomes]
rs73514487	0.83[AMR][1000 genomes]
rs73514490	0.83[AMR][1000 genomes]
rs73516509	1.00[AMR][1000 genomes]
rs73516525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516542	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516549	1.00[AMR][1000 genomes]
rs73516561	1.00[AMR][1000 genomes]
rs73516563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518450	0.95[AFR][1000 genomes]
rs73518479	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518492	0.95[AFR][1000 genomes]
rs73520510	0.85[AFR][1000 genomes]
rs73520521	0.88[AFR][1000 genomes]
rs73520537	0.86[AFR][1000 genomes]
rs9775523	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94973800-94990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:94974000-94999000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:94976800-94984800	Weak transcription	Colonic Mucosa	Colon
4	chr9:94982800-94985000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:94982800-94985200	Strong transcription	Primary B cells from cord blood	blood
6	chr9:94982800-94985200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:94982800-94985200	Strong transcription	Brain Germinal Matrix	brain
8	chr9:94982800-94986400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:94982800-94986400	Strong transcription	Brain Hippocampus Middle	brain
10	chr9:94982800-94986600	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr9:94982800-94986800	Strong transcription	Small Intestine	intestine
12	chr9:94982800-94987400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:94982800-94988200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:94982800-94988400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:94982800-94988400	Strong transcription	Aorta	Aorta
16	chr9:94982800-94988400	Strong transcription	Esophagus	oesophagus
17	chr9:94982800-94988400	Strong transcription	Pancreas	Pancrea
18	chr9:94982800-94988600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:94982800-94988600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:94982800-94988600	Strong transcription	Adipose Nuclei	Adipose
21	chr9:94982800-94988600	Strong transcription	Fetal Lung	lung
22	chr9:94982800-94988600	Strong transcription	HMEC	breast
23	chr9:94982800-94988800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr9:94982800-94988800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:94982800-94988800	Strong transcription	A549	lung
26	chr9:94982800-94988800	Strong transcription	HSMM	muscle
27	chr9:94982800-94989000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:94982800-94989000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:94982800-94989000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:94982800-94989000	Strong transcription	Primary T cells from cord blood	blood
31	chr9:94982800-94989000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr9:94982800-94989000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:94982800-94989000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr9:94982800-94989000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr9:94982800-94989000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:94982800-94989000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr9:94982800-94989000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:94982800-94989000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:94982800-94989000	Strong transcription	Brain Angular Gyrus	brain
40	chr9:94982800-94989000	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr9:94982800-94989000	Strong transcription	Fetal Brain Female	brain
42	chr9:94982800-94989000	Strong transcription	Placenta	Placenta
43	chr9:94982800-94989000	Strong transcription	Gastric	stomach
44	chr9:94982800-94989000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr9:94982800-94989000	Strong transcription	Rectal Smooth Muscle	rectum
46	chr9:94982800-94989000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr9:94982800-94989000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr9:94982800-94989000	Strong transcription	Dnd41	blood
49	chr9:94982800-94989000	Strong transcription	Hela-S3	cervix
50	chr9:94982800-94989000	Strong transcription	HSMMtube	muscle

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