Variant report

Variant	rs72746882
Chromosome Location	chr9:86318496-86318497
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	chr9:86318451-86318656	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:86313399..86317163-chr9:86318289..86320003,3	K562	blood:
2	chr9:85806373..85808943-chr9:86317135..86320093,2	K562	blood:
3	chr9:86236927..86238886-chr9:86316132..86318961,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254473	TF binding region
ENSG00000148057	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10119441	0.93[ASN][1000 genomes]
rs10217326	0.93[ASN][1000 genomes]
rs1044214	0.85[ASN][1000 genomes]
rs10481737	0.93[ASN][1000 genomes]
rs1052690	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10868039	0.93[ASN][1000 genomes]
rs11140214	0.93[ASN][1000 genomes]
rs12346707	0.93[ASN][1000 genomes]
rs17421460	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2542804	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780971	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2780973	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2780976	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2780994	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781002	0.85[ASN][1000 genomes]
rs2781004	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2781005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2781006	0.85[ASN][1000 genomes]
rs2781007	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811904	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2811910	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2811913	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2811914	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2811918	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs41308878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41309243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403955	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6559740	0.93[ASN][1000 genomes]
rs72746868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746869	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746871	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746879	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9410882	0.82[AMR][1000 genomes];0.92[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:109 , 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	chr9:86294200-86320000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:86296000-86320800	Weak transcription	Fetal Brain Female	brain
5	chr9:86297000-86320000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:86297600-86319800	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:86297600-86321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:86298000-86320400	Weak transcription	Fetal Intestine Large	intestine
9	chr9:86298600-86320400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:86298800-86320800	Weak transcription	Fetal Thymus	thymus
11	chr9:86299600-86319400	Weak transcription	Fetal Stomach	stomach
12	chr9:86299600-86320000	Weak transcription	Fetal Intestine Small	intestine
13	chr9:86300400-86320400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:86300600-86320400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:86301000-86320800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr9:86304400-86320800	Weak transcription	Brain Anterior Caudate	brain
17	chr9:86307600-86320400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr9:86310400-86320600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:86311200-86320800	Weak transcription	Fetal Lung	lung
20	chr9:86311600-86320000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr9:86311800-86321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:86312000-86319400	Weak transcription	Primary B cells from cord blood	blood
23	chr9:86312800-86320800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr9:86313000-86319400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr9:86313200-86320800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr9:86313400-86319800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:86313600-86321000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr9:86313800-86319400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:86314400-86319800	Enhancers	Primary T cells from cord blood	blood
30	chr9:86314400-86320800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr9:86314600-86319400	Weak transcription	Spleen	Spleen
32	chr9:86314600-86320200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:86314600-86321400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:86314600-86321400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr9:86314600-86321400	Weak transcription	Gastric	stomach
36	chr9:86314600-86321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:86315000-86320000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:86315000-86320400	Weak transcription	Fetal Heart	heart
39	chr9:86315000-86320600	Weak transcription	Stomach Mucosa	stomach
40	chr9:86315200-86319800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:86315200-86321400	Weak transcription	Aorta	Aorta
42	chr9:86315600-86320400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:86315800-86319800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr9:86315800-86320800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:86315800-86320800	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:86316000-86320200	Weak transcription	Right Ventricle	heart
47	chr9:86316000-86320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr9:86316000-86320600	Weak transcription	Brain Substantia Nigra	brain
49	chr9:86316000-86321400	Weak transcription	Pancreas	Pancrea
50	chr9:86316000-86321800	Weak transcription	Lung	lung

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