Variant report

Variant	rs8091720
Chromosome Location	chr18:12865186-12865187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12862494..12865307-chr18:12880258..12883236,3	MCF-7	breast:
2	chr18:12864698..12866636-chr18:12882765..12884603,2	MCF-7	breast:
3	chr18:12864148..12865735-chr18:12882867..12885303,2	K562	blood:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10502416	0.90[ASN][1000 genomes]
rs11080605	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080606	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16939910	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737361	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3786158	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55982017	0.81[ASN][1000 genomes]
rs56150366	0.83[ASN][1000 genomes]
rs62097819	0.94[ASN][1000 genomes]
rs62097820	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62097858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227207	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7242788	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7244152	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12838800-12879000	Weak transcription	Psoas Muscle	Psoas
2	chr18:12844200-12879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:12857400-12872000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:12857800-12866200	Weak transcription	HSMMtube	muscle
5	chr18:12857800-12867600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:12857800-12881600	Weak transcription	Fetal Stomach	stomach
7	chr18:12858000-12872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:12858600-12867400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr18:12859600-12867000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr18:12859600-12876800	Weak transcription	Primary T cells from cord blood	blood
11	chr18:12859800-12866600	Enhancers	Dnd41	blood
12	chr18:12861400-12865200	Enhancers	Fetal Lung	lung
13	chr18:12861800-12870000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:12861800-12872600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:12862200-12865800	Enhancers	Pancreas	Pancrea
16	chr18:12862800-12877000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr18:12863000-12872200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:12863000-12879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:12863000-12879200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:12863200-12867800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr18:12863200-12879000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:12863200-12879800	Weak transcription	Hela-S3	cervix
23	chr18:12863200-12880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:12863400-12868200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:12863400-12872400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:12863400-12875400	Weak transcription	HepG2	liver
27	chr18:12863400-12875800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:12863400-12879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:12863400-12879800	Weak transcription	NHEK	skin
30	chr18:12863400-12881400	Weak transcription	Right Atrium	heart
31	chr18:12863600-12865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:12863600-12872000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr18:12863600-12872200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr18:12863600-12875600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr18:12863600-12876200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr18:12863600-12880000	Weak transcription	Esophagus	oesophagus
37	chr18:12863600-12882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:12863800-12865200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr18:12863800-12867600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr18:12863800-12867600	Weak transcription	Thymus	Thymus
41	chr18:12863800-12867600	Weak transcription	GM12878-XiMat	blood
42	chr18:12863800-12868600	Weak transcription	Fetal Intestine Small	intestine
43	chr18:12863800-12871800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:12863800-12872200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr18:12863800-12872200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr18:12863800-12875600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr18:12863800-12878600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr18:12863800-12880000	Weak transcription	Small Intestine	intestine
49	chr18:12863800-12880200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:12864000-12867600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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