Variant report

Variant	rs10868045
Chromosome Location	chr9:86320791-86320792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr9:86320374-86320806	GM12878	blood:	n/a	n/a
2	ZNF384	chr9:86319701-86321305	GM12878	blood:	n/a	n/a
3	MAFK	chr9:86320583-86320926	HepG2	liver:	n/a	chr9:86320734-86320749
4	MAFK	chr9:86320584-86320903	HepG2	liver:	n/a	chr9:86320734-86320749
5	MAFF	chr9:86320584-86320892	HepG2	liver:	n/a	chr9:86320732-86320750
6	MAFK	chr9:86320628-86320833	IMR90	lung:	n/a	chr9:86320734-86320749
7	MXI1	chr9:86320575-86320898	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:85832727..85836639-chr9:86319596..86323973,3	MCF-7	breast:
2	chr9:86298986..86303456-chr9:86320609..86324425,4	MCF-7	breast:
3	chr9:86319810..86324349-chr9:86592631..86598226,6	K562	blood:
4	chr9:86310182..86311687-chr9:86319047..86320880,2	K562	blood:
5	chr9:86320289..86324589-chr9:86593742..86599530,6	K562	blood:
6	chr9:86320718..86323719-chr9:86450162..86455199,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254473	TF binding region
ENSG00000135018	Chromatin interaction
ENSG00000178966	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000229109	Chromatin interaction
ENSG00000226877	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10115799	1.00[CHB][hapmap]
rs10119344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10125432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1035274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1044175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10746718	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10746720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10746721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10780621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10868040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10868044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11140198	0.85[CHB][hapmap]
rs11140209	0.84[CHB][hapmap]
rs11791175	0.85[CHB][hapmap]
rs1333863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1333865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1360685	0.89[ASN][1000 genomes]
rs1413293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1537503	0.85[CHB][hapmap]
rs1572135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1889260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1968216	0.95[ASN][1000 genomes]
rs2042042	0.95[ASN][1000 genomes]
rs2058912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2542775	0.89[ASN][1000 genomes]
rs2542776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2542803	0.95[ASN][1000 genomes]
rs2780969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2780972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2780975	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2780979	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2780982	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2780995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2780997	0.92[ASN][1000 genomes]
rs2780998	0.92[ASN][1000 genomes]
rs2780999	0.89[ASN][1000 genomes]
rs2781000	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2781001	0.89[ASN][1000 genomes]
rs2781003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2811899	0.85[EUR][1000 genomes]
rs2811900	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2811901	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2811902	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2811903	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2811905	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2811906	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2811909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2811912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2811919	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811921	0.85[CHB][hapmap]
rs2811922	0.89[ASN][1000 genomes]
rs2811923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2811924	0.87[ASN][1000 genomes]
rs2811925	0.89[ASN][1000 genomes]
rs2811926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2811927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2811928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2811929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2811930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2811931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4146741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4242623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4454364	0.85[CHB][hapmap]
rs4877796	0.85[CHB][hapmap]
rs4877798	0.95[ASN][1000 genomes]
rs6559737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6559739	0.91[ASN][1000 genomes]
rs7018643	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7023082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7039019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7850944	0.95[ASN][1000 genomes]
rs7865296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7874980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944946	0.95[ASN][1000 genomes]
rs961807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[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	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1044639	chr9:86252505-86412041	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv893513	chr9:86298632-86433459	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86289000-86321800	Weak transcription	Esophagus	oesophagus
2	chr9:86294000-86321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:86296000-86320800	Weak transcription	Fetal Brain Female	brain
4	chr9:86297600-86321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:86298800-86320800	Weak transcription	Fetal Thymus	thymus
6	chr9:86301000-86320800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr9:86304400-86320800	Weak transcription	Brain Anterior Caudate	brain
8	chr9:86311200-86320800	Weak transcription	Fetal Lung	lung
9	chr9:86311800-86321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:86312800-86320800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr9:86313200-86320800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr9:86313600-86321000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr9:86314400-86320800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr9:86314600-86321400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:86314600-86321400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:86314600-86321400	Weak transcription	Gastric	stomach
17	chr9:86314600-86321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:86315200-86321400	Weak transcription	Aorta	Aorta
19	chr9:86315800-86320800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:86315800-86320800	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:86316000-86321400	Weak transcription	Pancreas	Pancrea
22	chr9:86316000-86321800	Weak transcription	Lung	lung
23	chr9:86317000-86320800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:86317000-86321000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:86317200-86320800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:86317200-86320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:86317200-86320800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:86317200-86320800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:86317200-86320800	Weak transcription	Ovary	ovary
30	chr9:86317200-86320800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:86317200-86320800	Weak transcription	Right Atrium	heart
32	chr9:86317200-86320800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:86317200-86321000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:86317200-86321000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:86317200-86321400	Weak transcription	Left Ventricle	heart
36	chr9:86317400-86320800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:86317400-86321000	Weak transcription	HSMM	muscle
38	chr9:86317600-86321000	Enhancers	Liver	Liver
39	chr9:86317800-86320800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr9:86318000-86320800	Weak transcription	NHDF-Ad	bronchial
41	chr9:86318000-86324000	Active TSS	GM12878-XiMat	blood
42	chr9:86318200-86321800	Weak transcription	Small Intestine	intestine
43	chr9:86319200-86320800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr9:86319400-86320800	Weak transcription	Fetal Brain Male	brain
45	chr9:86319400-86321000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr9:86319400-86321000	Enhancers	Thymus	Thymus
47	chr9:86319800-86320800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:86319800-86321000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:86319800-86321000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr9:86320000-86320800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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