Variant report

Variant	rs7849326
Chromosome Location	chr9:116057006-116057007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116053533..116057735-chr9:116058068..116062323,4	K562	blood:
2	chr9:116035504..116039547-chr9:116056957..116059661,4	K562	blood:
3	chr9:116056474..116058317-chr9:116067548..116069839,2	K562	blood:
4	chr9:116054929..116058723-chr9:116059143..116063371,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136875	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000165188	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10117451	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10759638	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10817475	0.85[ASN][1000 genomes]
rs10981710	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10981715	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11552582	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11789755	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12236683	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12343629	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296073	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3750532	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3750533	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750534	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4979231	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4979232	0.85[ASN][1000 genomes]
rs4979233	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478000	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027833	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7847295	0.86[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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7849326	CDC26	cis	Artery Tibial	GTEx
rs7849326	CDC26	cis	Whole Blood	GTEx
rs7849326	CDC26	cis	Adipose Subcutaneous	GTEx
rs7849326	CDC26	cis	Muscle Skeletal	GTEx
rs7849326	CDC26	cis	Esophagus Muscularis	GTEx
rs7849326	BSPRY	cis	Heart Left Ventricle	GTEx
rs7849326	CDC26	cis	Heart Left Ventricle	GTEx
rs7849326	CDC26	cis	Skin Sun Exposed Lower leg	GTEx
rs7849326	PRPF4	cis	Thyroid	GTEx
rs7849326	CDC26	cis	lung	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116038800-116060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:116039000-116058200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:116040800-116057400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:116040800-116057400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:116050000-116062000	Weak transcription	Stomach Mucosa	stomach
6	chr9:116054000-116057200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:116054200-116057600	Weak transcription	Fetal Brain Male	brain
8	chr9:116054200-116065000	Weak transcription	Fetal Kidney	kidney
9	chr9:116054600-116065200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:116054800-116057400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:116054800-116057400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:116054800-116057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:116054800-116058000	Weak transcription	Lung	lung
14	chr9:116054800-116058400	Weak transcription	Ovary	ovary
15	chr9:116054800-116058600	Weak transcription	HSMMtube	muscle
16	chr9:116054800-116059600	Weak transcription	Small Intestine	intestine
17	chr9:116054800-116060600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:116054800-116062200	Weak transcription	Colonic Mucosa	Colon
19	chr9:116054800-116062200	Weak transcription	Pancreas	Pancrea
20	chr9:116054800-116065200	Weak transcription	Esophagus	oesophagus
21	chr9:116055000-116058000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:116055000-116058000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:116055000-116060200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:116055000-116063800	Weak transcription	Spleen	Spleen
25	chr9:116055200-116058200	Weak transcription	Brain Anterior Caudate	brain
26	chr9:116055200-116058200	Weak transcription	K562	blood
27	chr9:116055200-116085200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:116055400-116058600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr9:116055600-116057400	Weak transcription	Brain Substantia Nigra	brain
30	chr9:116055600-116059400	Weak transcription	Hela-S3	cervix
31	chr9:116055600-116060000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:116055600-116062200	Weak transcription	A549	lung
33	chr9:116055800-116057600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:116055800-116057800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:116055800-116057800	Weak transcription	Right Ventricle	heart
36	chr9:116055800-116058400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:116055800-116058600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr9:116055800-116059600	Weak transcription	Adipose Nuclei	Adipose
39	chr9:116055800-116061600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr9:116055800-116061800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:116055800-116062000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:116056000-116057600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr9:116056000-116057600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr9:116056000-116057600	Weak transcription	Aorta	Aorta
45	chr9:116056000-116057800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:116056000-116057800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr9:116056000-116057800	Weak transcription	Left Ventricle	heart
48	chr9:116056000-116058000	Weak transcription	Fetal Intestine Small	intestine
49	chr9:116056000-116058000	Weak transcription	HepG2	liver
50	chr9:116056000-116058200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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