Variant report

Variant	rs12970249
Chromosome Location	chr18:9165813-9165814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10451358	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11081465	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11081466	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11081467	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12605173	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12954031	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12966956	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1443596	0.88[ASN][1000 genomes]
rs2028656	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130178	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4318275	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4592725	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4797359	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4798783	0.98[ASN][1000 genomes]
rs4798785	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4798789	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4798790	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6506644	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6506646	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6506648	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7228910	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7229883	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7231452	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7235514	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7240452	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7505341	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7505814	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8083078	0.81[ASN][1000 genomes]
rs8084491	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8089143	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8092135	0.81[EUR][1000 genomes]
rs8092613	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8094556	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9646498	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9652952	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9946838	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs998171	0.87[EUR][1000 genomes];0.88[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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9142400-9174000	Weak transcription	HSMMtube	muscle
2	chr18:9146600-9174000	Weak transcription	Esophagus	oesophagus
3	chr18:9148000-9171400	Weak transcription	NHDF-Ad	bronchial
4	chr18:9148000-9173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:9148200-9173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:9150400-9173200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr18:9151400-9173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:9151800-9174000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr18:9153600-9182400	Weak transcription	Liver	Liver
11	chr18:9153600-9185000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:9154200-9174000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:9154600-9172600	Weak transcription	Lung	lung
14	chr18:9154600-9174000	Weak transcription	Pancreas	Pancrea
15	chr18:9157400-9182400	Weak transcription	HepG2	liver
16	chr18:9160400-9171800	Weak transcription	Psoas Muscle	Psoas
17	chr18:9162200-9187800	Weak transcription	Thymus	Thymus
18	chr18:9162400-9172600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:9162400-9173600	Weak transcription	Ovary	ovary
20	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:9164600-9171600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr18:9164600-9173800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9165000-9167600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:9165000-9174000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:9165200-9171400	Weak transcription	Fetal Lung	lung
26	chr18:9165200-9173800	Weak transcription	Primary B cells from cord blood	blood
27	chr18:9165400-9171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr18:9165600-9168000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr18:9165600-9171400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr18:9165600-9171400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr18:9165600-9171400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:9165600-9171400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr18:9165600-9171800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr18:9165600-9183000	Weak transcription	Primary T cells from cord blood	blood
35	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:9165800-9174000	Weak transcription	Fetal Heart	heart

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