Variant report

Variant	rs73416984
Chromosome Location	chr18:12911448-12911449
allele	C/T
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	PAX5	chr18:12910986-12911498	GM12878	blood:	n/a	n/a
2	CTCF	chr18:12911400-12911550	HBMEC	blood vessel:	n/a	chr18:12911487-12911496 chr18:12911483-12911496
3	CTCF	chr18:12911420-12911570	GM12872	blood:	n/a	chr18:12911487-12911496 chr18:12911483-12911496
4	CTCF	chr18:12911440-12911590	GM12874	blood:	n/a	chr18:12911487-12911496 chr18:12911483-12911496
5	CTCF	chr18:12911300-12911450	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr18:12911440-12911590	GM12871	blood:	n/a	chr18:12911487-12911496 chr18:12911483-12911496

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12908308..12911481-chr18:12911721..12914247,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267336	TF binding region
ENSG00000267336	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12326895	1.00[ASN][1000 genomes]
rs12326918	1.00[ASN][1000 genomes]
rs12456090	1.00[ASN][1000 genomes]
rs1941677	1.00[ASN][1000 genomes]
rs45569735	1.00[ASN][1000 genomes]
rs57059670	1.00[ASN][1000 genomes]
rs59094674	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229084	1.00[ASN][1000 genomes]
rs73406801	1.00[ASN][1000 genomes]
rs73408703	1.00[ASN][1000 genomes]
rs73950700	1.00[ASN][1000 genomes]
rs73950701	1.00[ASN][1000 genomes]
rs73950702	1.00[ASN][1000 genomes]
rs8083335	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089518	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8090005	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092206	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093334	1.00[ASN][1000 genomes]
rs9953027	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers 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	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a
7	esv3424405	chr18:12911202-12913700	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12907600-12913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12910800-12911600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:12910800-12911600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr18:12910800-12911600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:12910800-12911800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr18:12910800-12911800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr18:12910800-12911800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr18:12910800-12911800	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr18:12910800-12912000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr18:12910800-12912200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:12911000-12911600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:12911000-12911600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr18:12911000-12911600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:12911000-12911600	Flanking Active TSS	Fetal Thymus	thymus
15	chr18:12911000-12911600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
16	chr18:12911000-12911800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr18:12911000-12911800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr18:12911000-12911800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:12911000-12911800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
20	chr18:12911000-12911800	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr18:12911000-12911800	Active TSS	Right Atrium	heart
22	chr18:12911000-12912000	Active TSS	Primary T cells from cord blood	blood
23	chr18:12911000-12912000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:12911000-12912000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr18:12911000-12912000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr18:12911000-12912200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr18:12911000-12912200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:12911000-12912200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr18:12911000-12912200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr18:12911000-12912200	Bivalent Enhancer	Fetal Brain Male	brain
31	chr18:12911000-12912400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr18:12911000-12912400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:12911000-12912400	Flanking Active TSS	Right Ventricle	heart
34	chr18:12911200-12911600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:12911200-12911600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:12911200-12911600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr18:12911200-12911600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
38	chr18:12911200-12911600	Active TSS	Brain Substantia Nigra	brain
39	chr18:12911200-12911600	Active TSS	Ovary	ovary
40	chr18:12911200-12911600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr18:12911200-12911600	Flanking Active TSS	Spleen	Spleen
42	chr18:12911200-12911600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
43	chr18:12911200-12911600	Flanking Bivalent TSS/Enh	NH-A	brain
44	chr18:12911200-12911800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr18:12911200-12911800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr18:12911200-12911800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr18:12911200-12911800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr18:12911200-12911800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr18:12911200-12911800	Flanking Active TSS	Liver	Liver
50	chr18:12911200-12911800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain

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