Variant report

Variant	rs12954031
Chromosome Location	chr18:9162222-9162223
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9137627..9140441-chr18:9161165..9162837,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10451358	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11081465	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11081466	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11081467	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12605173	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12958093	0.83[ASN][1000 genomes]
rs12966956	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12970249	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1443596	0.88[ASN][1000 genomes]
rs2028656	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276095	0.82[AFR][1000 genomes]
rs34452937	0.83[ASN][1000 genomes]
rs4130178	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4318275	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4592725	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4797359	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4798782	0.83[ASN][1000 genomes]
rs4798783	0.98[ASN][1000 genomes]
rs4798785	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4798789	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4798790	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6506644	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6506646	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6506648	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7228910	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7229883	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7231452	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7235514	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7240452	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7505341	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7505814	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8083078	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8084491	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8089143	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8092135	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8092613	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8094556	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs874250	0.80[AFR][1000 genomes]
rs906807	0.80[AFR][1000 genomes]
rs9646498	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9652952	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9944905	0.83[ASN][1000 genomes]
rs9946838	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9948560	0.83[ASN][1000 genomes]
rs9959998	0.83[ASN][1000 genomes]
rs998171	0.89[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9140000-9163000	Weak transcription	Fetal Intestine Large	intestine
2	chr18:9142400-9174000	Weak transcription	HSMMtube	muscle
3	chr18:9146600-9174000	Weak transcription	Esophagus	oesophagus
4	chr18:9147800-9163000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr18:9147800-9165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:9148000-9171400	Weak transcription	NHDF-Ad	bronchial
7	chr18:9148000-9173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:9148200-9162800	Weak transcription	Dnd41	blood
9	chr18:9148200-9162800	Weak transcription	Hela-S3	cervix
10	chr18:9148200-9164000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:9148200-9173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:9150400-9173200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:9151400-9173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:9151800-9174000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr18:9153600-9182400	Weak transcription	Liver	Liver
17	chr18:9153600-9185000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:9154200-9174000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:9154400-9162600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr18:9154600-9164000	Weak transcription	Aorta	Aorta
21	chr18:9154600-9172600	Weak transcription	Lung	lung
22	chr18:9154600-9174000	Weak transcription	Pancreas	Pancrea
23	chr18:9154800-9164400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:9157400-9182400	Weak transcription	HepG2	liver
25	chr18:9157600-9164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr18:9158400-9162400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr18:9159000-9163000	Strong transcription	Primary B cells from cord blood	blood
28	chr18:9159000-9164400	Weak transcription	Primary T cells from cord blood	blood
29	chr18:9159400-9162400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr18:9159400-9162400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:9160400-9163000	Weak transcription	Fetal Stomach	stomach
32	chr18:9160400-9163800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr18:9160400-9171800	Weak transcription	Psoas Muscle	Psoas
34	chr18:9160600-9165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr18:9161000-9162400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr18:9161000-9163800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr18:9161000-9164600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr18:9161200-9163200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr18:9161200-9163200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:9161200-9163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:9161200-9164000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr18:9161800-9162400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr18:9161800-9162400	Strong transcription	Ovary	ovary
44	chr18:9161800-9162600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr18:9162000-9162600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:9162000-9162600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr18:9162200-9162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr18:9162200-9187800	Weak transcription	Thymus	Thymus

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