Variant report

Variant	rs7850264
Chromosome Location	chr9:116074891-116074892
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116068586..116075781-chr9:116167998..116173640,10	MCF-7	breast:
2	chr9:116074633..116076167-chr9:116080885..116083605,2	K562	blood:
3	chr9:116063629..116065379-chr9:116074653..116076801,2	K562	blood:
4	chr9:116074654..116076779-chr9:116160819..116163014,2	MCF-7	breast:
5	chr9:116048493..116050036-chr9:116073858..116076574,2	K562	blood:

Variant related genes	Relation type
ENSG00000148229	Chromatin interaction
ENSG00000157653	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10114327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10117906	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10118045	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10118275	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10759640	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10759641	0.94[EUR][1000 genomes]
rs10817481	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10817485	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10981762	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10981763	0.86[ASN][1000 genomes]
rs11787602	0.86[ASN][1000 genomes]
rs1323466	0.91[AFR][1000 genomes]
rs1998504	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2093691	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2296073	0.82[AFR][1000 genomes]
rs3810921	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6478002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6478003	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6478004	0.86[ASN][1000 genomes]
rs6478005	0.86[ASN][1000 genomes]
rs6478006	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7025188	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7025371	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7025517	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7025770	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7026076	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7027833	0.83[AFR][1000 genomes]
rs7041572	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7048039	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7849513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7850002	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7863921	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7864788	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7868271	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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 target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7850264	CDC26	cis	Whole Blood	GTEx
rs7850264	BSPRY	cis	Heart Left Ventricle	GTEx
rs7850264	CDC26	cis	Muscle Skeletal	GTEx
rs7850264	CDC26	cis	Esophagus Muscularis	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116055200-116085200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:116056000-116087000	Weak transcription	Thymus	Thymus
3	chr9:116062600-116075600	Weak transcription	Placenta	Placenta
4	chr9:116065400-116086800	Weak transcription	Gastric	stomach
5	chr9:116065600-116079000	Weak transcription	Fetal Intestine Small	intestine
6	chr9:116065600-116083400	Weak transcription	Esophagus	oesophagus
7	chr9:116070000-116080000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:116070200-116077400	Weak transcription	Ovary	ovary
9	chr9:116070200-116077800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:116070800-116083800	Weak transcription	Spleen	Spleen
11	chr9:116072000-116085200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:116072800-116079200	Weak transcription	Lung	lung
13	chr9:116072800-116080200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:116073000-116080400	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:116073200-116077200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:116073200-116077400	Weak transcription	Fetal Stomach	stomach
17	chr9:116073200-116078400	Weak transcription	Pancreas	Pancrea
18	chr9:116073200-116079600	Weak transcription	Fetal Lung	lung
19	chr9:116073200-116081000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:116073800-116076200	Enhancers	Fetal Muscle Leg	muscle
21	chr9:116073800-116080000	Weak transcription	Adipose Nuclei	Adipose
22	chr9:116073800-116101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:116074000-116079800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:116074600-116075200	Weak transcription	HSMMtube	muscle
25	chr9:116074600-116077600	Weak transcription	Brain Anterior Caudate	brain
26	chr9:116074600-116079800	Weak transcription	Left Ventricle	heart
27	chr9:116074600-116080600	Weak transcription	Right Ventricle	heart
28	chr9:116074800-116075600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:116074800-116077400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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