Variant report

Variant	rs12743772
Chromosome Location	chr1:160973006-160973007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160972087..160975048-chr1:161066232..161067921,2	MCF-7	breast:
2	chr1:160972146..160973974-chr1:160974703..160977158,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12030262	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12723902	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243479	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2250288	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2481072	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2483143	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2483144	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2483148	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28365978	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2988723	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2990700	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2990701	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2990704	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2990705	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007156	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3007157	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4656975	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530765	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7546890	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9427367	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12743772	F11R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160960400-160978400	Weak transcription	Fetal Lung	lung
2	chr1:160960600-160977400	Weak transcription	Fetal Kidney	kidney
3	chr1:160960600-160981600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:160963400-160983000	Weak transcription	HSMMtube	muscle
5	chr1:160967800-160978200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:160967800-160978800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:160968000-160976800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:160969800-160978400	Weak transcription	A549	lung
9	chr1:160970000-160974000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:160970000-160982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:160970400-160976000	Weak transcription	Stomach Mucosa	stomach
12	chr1:160970600-160981800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:160970600-160981800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:160970600-160982400	Weak transcription	Dnd41	blood
15	chr1:160970600-160982600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:160970600-160983000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:160970600-160983000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:160970600-160983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:160970800-160974200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:160970800-160974800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:160970800-160981600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:160970800-160982600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:160970800-160983000	Weak transcription	HSMM	muscle
24	chr1:160971000-160973400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:160971000-160976000	Weak transcription	Lung	lung
26	chr1:160971000-160977400	Weak transcription	HUVEC	blood vessel
27	chr1:160971000-160977800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:160971000-160979400	Weak transcription	Ovary	ovary
29	chr1:160971000-160981400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:160971000-160981400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:160971000-160981600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:160971000-160982000	Weak transcription	GM12878-XiMat	blood
33	chr1:160971000-160982600	Weak transcription	Thymus	Thymus
34	chr1:160971000-160983200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:160971200-160976000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:160971200-160976000	Weak transcription	Spleen	Spleen
37	chr1:160971200-160976400	Weak transcription	Gastric	stomach
38	chr1:160971200-160976400	Weak transcription	Pancreas	Pancrea
39	chr1:160971200-160981200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:160971200-160981800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:160971200-160981800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:160971200-160981800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:160971200-160981800	Weak transcription	Fetal Thymus	thymus
44	chr1:160971200-160982800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:160971200-160983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:160971200-160983000	Weak transcription	Colonic Mucosa	Colon
47	chr1:160971400-160978400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:160971400-160978800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:160971400-160981200	Weak transcription	Primary B cells from cord blood	blood
50	chr1:160971400-160981400	Weak transcription	Primary hematopoietic stem cells	blood

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