Variant report

Variant	rs10981720
Chromosome Location	chr9:116056111-116056112
allele	C/T
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	chr9:116037887..116040476-chr9:116055081..116056645,2	K562	blood:
3	chr9:116037155..116039371-chr9:116054737..116056807,2	MCF-7	breast:
4	chr9:116036914..116039387-chr9:116053973..116056581,2	K562	blood:
5	chr9:116054929..116058723-chr9:116059143..116063371,5	MCF-7	breast:
6	chr9:116054553..116056753-chr9:116171016..116173087,2	MCF-7	breast:
7	chr9:116053475..116056879-chr9:116057829..116061617,4	K562	blood:

Variant related genes	Relation type
ENSG00000165188	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000176386	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10759638	0.81[EUR][1000 genomes]
rs10817474	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10817475	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981712	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981715	0.81[EUR][1000 genomes]
rs11552582	0.81[EUR][1000 genomes]
rs11789755	0.81[EUR][1000 genomes]
rs12343629	0.81[EUR][1000 genomes]
rs3750532	0.81[EUR][1000 genomes]
rs3750534	0.81[EUR][1000 genomes]
rs4979231	0.81[EUR][1000 genomes]
rs4979232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4979233	0.81[EUR][1000 genomes]
rs6478000	0.81[EUR][1000 genomes]
rs7027833	0.80[EUR][1000 genomes]
rs7847295	1.00[AMR][1000 genomes];1.00[EUR][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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10981720	CDC26	cis	Esophagus Mucosa	GTEx
rs10981720	CDC26	cis	lung	GTEx
rs10981720	CDC26	cis	Heart Left Ventricle	GTEx
rs10981720	CDC26	cis	Whole Blood	GTEx
rs10981720	PRPF4	cis	Thyroid	GTEx
rs10981720	CDC26	cis	Skin Sun Exposed Lower leg	GTEx
rs10981720	CDC26	cis	Thyroid	GTEx
rs10981720	CDC26	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 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	chr9:116039000-116056800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:116039000-116058200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:116039400-116056200	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr9:116039400-116056400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:116039400-116056400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:116039400-116056400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:116039400-116056400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:116039400-116056600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:116039400-116056600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:116039400-116056600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr9:116039400-116056600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:116039400-116056600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:116039400-116056600	Strong transcription	Placenta	Placenta
15	chr9:116039400-116056600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:116039400-116056600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr9:116039400-116056800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:116039400-116056800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:116039600-116056200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:116039600-116056400	Strong transcription	Fetal Lung	lung
21	chr9:116039600-116056600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr9:116039600-116056800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr9:116039600-116056800	Strong transcription	Fetal Stomach	stomach
24	chr9:116040000-116056400	Strong transcription	NH-A	brain
25	chr9:116040000-116056800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr9:116040200-116056200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:116040400-116056200	Strong transcription	Primary B cells from cord blood	blood
28	chr9:116040400-116056200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:116040400-116056200	Strong transcription	HMEC	breast
30	chr9:116040400-116056600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:116040400-116056800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:116040400-116056800	Strong transcription	Fetal Thymus	thymus
33	chr9:116040600-116056200	Strong transcription	Brain Hippocampus Middle	brain
34	chr9:116040600-116056800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:116040800-116056200	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr9:116040800-116056200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr9:116040800-116056800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr9:116040800-116056800	Strong transcription	Fetal Muscle Leg	muscle
39	chr9:116040800-116057400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:116040800-116057400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:116041000-116056200	Strong transcription	Brain Germinal Matrix	brain
42	chr9:116041000-116056400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr9:116041000-116056600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:116041000-116056800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:116041200-116056200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:116041200-116056200	Strong transcription	Dnd41	blood
47	chr9:116041200-116056400	Strong transcription	Liver	Liver
48	chr9:116041200-116056600	Strong transcription	Fetal Brain Female	brain
49	chr9:116041400-116056200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr9:116041600-116056600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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