Variant report

Variant	rs10123415
Chromosome Location	chr9:115991317-115991318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115990891..115993253-chr9:115993931..115999009,4	K562	blood:
2	chr9:115980759..115986590-chr9:115988652..115992433,8	K562	blood:
3	chr9:115981837..115986059-chr9:115990865..115995580,5	MCF-7	breast:
4	chr9:115983506..115986924-chr9:115988828..115991669,3	K562	blood:

Variant related genes	Relation type
ENSG00000119321	Chromatin interaction
ENSG00000136868	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10125992	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513189	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739388	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10739390	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739392	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10759633	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10759636	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10759637	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10817461	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10817468	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11792628	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4129395	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4129396	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4129397	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4284098	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4560868	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979223	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979226	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6477998	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477999	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7022397	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7038769	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7041615	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7850357	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851395	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7859354	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	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
4	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv893745	chr9:115955271-116005783	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1041112	chr9:115960704-116005783	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv893746	chr9:115983540-116022826	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10123415	CDC26	cis	Esophagus Muscularis	GTEx
rs10123415	CDC26	cis	Muscle Skeletal	GTEx
rs10123415	CDC26	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115984800-115994800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr9:115984800-115995400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr9:115985000-115994600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:115985000-115994600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:115985000-115994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:115985000-115994800	Weak transcription	Left Ventricle	heart
7	chr9:115985000-115996200	Weak transcription	Brain Substantia Nigra	brain
8	chr9:115985000-116020800	Weak transcription	Aorta	Aorta
9	chr9:115985200-115991600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:115985200-115992200	Weak transcription	Fetal Brain Female	brain
11	chr9:115985200-115992400	Weak transcription	Brain Angular Gyrus	brain
12	chr9:115985200-115992600	Weak transcription	Lung	lung
13	chr9:115985200-115992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:115985200-115994000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:115985200-115994200	Weak transcription	Fetal Brain Male	brain
16	chr9:115985200-115994600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr9:115985200-115994800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:115985200-115998000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:115985200-116001800	Weak transcription	Pancreas	Pancrea
20	chr9:115985400-115994400	Weak transcription	HUVEC	blood vessel
21	chr9:115985400-115995000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr9:115985400-115995600	Weak transcription	HSMMtube	muscle
23	chr9:115985600-115992200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:115985600-115994600	Weak transcription	NHDF-Ad	bronchial
25	chr9:115985600-115994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:115985600-115995600	Weak transcription	Brain Hippocampus Middle	brain
27	chr9:115985600-115997600	Weak transcription	Brain Germinal Matrix	brain
28	chr9:115985600-116020800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr9:115985800-115994800	Weak transcription	Placenta	Placenta
30	chr9:115985800-115995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:115985800-115995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:115985800-116018400	Weak transcription	NHEK	skin
33	chr9:115985800-116019000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:115985800-116021000	Weak transcription	Fetal Stomach	stomach
35	chr9:115986400-115995200	Weak transcription	Fetal Lung	lung
36	chr9:115986400-116013000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:115986800-115994400	Weak transcription	GM12878-XiMat	blood
38	chr9:115987000-115995000	Weak transcription	NHLF	lung
39	chr9:115987600-115995200	Weak transcription	Adipose Nuclei	Adipose
40	chr9:115987600-115995400	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:115987600-115995800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:115987600-115998600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:115987600-116017800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr9:115987600-116018200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:115987800-115991800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:115987800-115992200	Weak transcription	HSMM	muscle
47	chr9:115987800-116011000	Weak transcription	A549	lung
48	chr9:115987800-116021000	Weak transcription	Hela-S3	cervix
49	chr9:115988400-115992400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:115989000-116019200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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