Variant report

Variant	rs7027833
Chromosome Location	chr9:116063657-116063658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116063629..116065379-chr9:116074653..116076801,2	K562	blood:
2	chr9:116037849..116040056-chr9:116062437..116065582,3	MCF-7	breast:
3	chr9:116036612..116039217-chr9:116063138..116067985,4	MCF-7	breast:
4	chr9:116063473..116067468-chr9:116171615..116174364,4	MCF-7	breast:
5	chr9:116057020..116059626-chr9:116062795..116064510,2	K562	blood:
6	chr9:116063542..116066515-chr9:116162468..116165263,2	K562	blood:
7	chr9:116063284..116065510-chr9:116102338..116105750,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148218	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000148225	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000176386	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs10114327	0.86[AFR][1000 genomes]
rs10117451	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10759638	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10759640	0.85[AFR][1000 genomes]
rs10817475	0.81[EUR][1000 genomes]
rs10817481	0.84[AFR][1000 genomes]
rs10981710	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10981715	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10981720	0.80[EUR][1000 genomes]
rs11552582	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11789755	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12236683	0.83[EUR][1000 genomes]
rs12343629	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1323466	0.85[AFR][1000 genomes]
rs2093691	0.80[AFR][1000 genomes]
rs2296073	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28440160	0.82[ASN][1000 genomes]
rs3750532	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750533	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750534	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810921	0.85[AFR][1000 genomes]
rs4979231	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4979232	0.80[EUR][1000 genomes]
rs4979233	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6478000	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6478002	0.88[AFR][1000 genomes]
rs6478003	0.82[AFR][1000 genomes]
rs7025371	0.85[AFR][1000 genomes]
rs7041572	0.88[AFR][1000 genomes]
rs7847295	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7849326	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7849513	0.88[AFR][1000 genomes]
rs7850002	0.80[AFR][1000 genomes]
rs7850264	0.83[AFR][1000 genomes]
rs7860625	0.81[ASN][1000 genomes]
rs7863921	0.85[AFR][1000 genomes]
rs7864788	0.88[AFR][1000 genomes]
rs7868271	0.86[AFR][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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7027833	CDC26	cis	Thyroid	GTEx
rs7027833	CDC26	cis	Artery Tibial	GTEx
rs7027833	CDC26	cis	Whole Blood	GTEx
rs7027833	CDC26	cis	Nerve Tibial	GTEx
rs7027833	BSPRY	cis	Heart Left Ventricle	GTEx
rs7027833	CDC26	cis	Heart Left Ventricle	GTEx
rs7027833	CDC26	cis	Skin Sun Exposed Lower leg	GTEx
rs7027833	CDC26	cis	Esophagus Muscularis	GTEx
rs7027833	CDC26	cis	lung	GTEx
rs7027833	CDC26	cis	Adipose Subcutaneous	GTEx
rs7027833	PRPF4	cis	Thyroid	GTEx
rs7027833	CDC26	cis	Muscle Skeletal	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116054200-116065000	Weak transcription	Fetal Kidney	kidney
2	chr9:116054600-116065200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:116054800-116065200	Weak transcription	Esophagus	oesophagus
4	chr9:116055000-116063800	Weak transcription	Spleen	Spleen
5	chr9:116055200-116085200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:116056000-116087000	Weak transcription	Thymus	Thymus
7	chr9:116056400-116064600	Weak transcription	Fetal Intestine Large	intestine
8	chr9:116056600-116065400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:116056800-116065000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:116056800-116065200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:116058400-116064600	Weak transcription	HepG2	liver
12	chr9:116061000-116064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:116061400-116065200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:116062400-116065200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:116062600-116075600	Weak transcription	Placenta	Placenta
16	chr9:116062800-116063800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:116062800-116064400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:116063000-116064400	Weak transcription	Fetal Intestine Small	intestine
19	chr9:116063000-116064600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr9:116063000-116064600	Weak transcription	Stomach Mucosa	stomach
21	chr9:116063000-116065000	Weak transcription	Colonic Mucosa	Colon
22	chr9:116063000-116065000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:116063200-116065200	Weak transcription	Gastric	stomach

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