Variant report

Variant	rs74126851
Chromosome Location	chr1:174572846-174572847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10489262	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912792	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912794	1.00[EUR][1000 genomes]
rs10912801	1.00[EUR][1000 genomes]
rs10912808	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912809	1.00[EUR][1000 genomes]
rs10912815	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912816	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912818	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912819	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057359	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064144	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066268	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066736	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067772	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067791	1.00[EUR][1000 genomes]
rs12068187	0.89[AFR][1000 genomes]
rs12069689	1.00[EUR][1000 genomes]
rs12070505	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072909	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077283	1.00[EUR][1000 genomes]
rs12077880	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078714	1.00[EUR][1000 genomes]
rs12080070	1.00[EUR][1000 genomes]
rs12080242	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088650	1.00[EUR][1000 genomes]
rs12092811	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096717	1.00[EUR][1000 genomes]
rs12354111	1.00[EUR][1000 genomes]
rs1612104	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1618234	1.00[EUR][1000 genomes]
rs1653631	1.00[EUR][1000 genomes]
rs1653633	1.00[EUR][1000 genomes]
rs1653637	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847096	1.00[EUR][1000 genomes]
rs16847457	1.00[EUR][1000 genomes]
rs173000	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1754356	1.00[EUR][1000 genomes]
rs17838246	1.00[EUR][1000 genomes]
rs189141	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2116515	1.00[EUR][1000 genomes]
rs2760059	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2987871	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3123641	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332766	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332775	1.00[EUR][1000 genomes]
rs332780	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332785	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332790	1.00[EUR][1000 genomes]
rs332792	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs333419	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs333425	1.00[EUR][1000 genomes]
rs333434	1.00[EUR][1000 genomes]
rs35582650	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392368	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4290116	1.00[EUR][1000 genomes]
rs4309037	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs454643	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55659406	1.00[EUR][1000 genomes]
rs56106555	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357087	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58238388	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6672781	1.00[EUR][1000 genomes]
rs6701696	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126848	1.00[EUR][1000 genomes]
rs74126855	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525430	0.83[AMR][1000 genomes];1.00[EUR][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	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv999295	chr1:174457532-174596961	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv534381	chr1:174468168-174656796	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3434296	chr1:174556344-174594264	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174546000-174573000	Weak transcription	Left Ventricle	heart
2	chr1:174555000-174574000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:174555000-174575000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:174566800-174586600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:174568400-174588800	Weak transcription	Esophagus	oesophagus
6	chr1:174568600-174574200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:174569800-174573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:174570400-174575800	Weak transcription	Gastric	stomach
9	chr1:174570800-174573000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:174571600-174573200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:174571600-174574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:174571600-174574000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:174571600-174574000	Weak transcription	Dnd41	blood
14	chr1:174571600-174574400	Weak transcription	Brain Germinal Matrix	brain
15	chr1:174571800-174573400	Strong transcription	Primary T cells from cord blood	blood
16	chr1:174571800-174574200	Weak transcription	Adipose Nuclei	Adipose
17	chr1:174572200-174573600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:174572200-174573600	ZNF genes & repeats	Aorta	Aorta
19	chr1:174572200-174574000	Strong transcription	Primary B cells from cord blood	blood
20	chr1:174572400-174573000	Strong transcription	Thymus	Thymus
21	chr1:174572400-174573000	Strong transcription	Spleen	Spleen
22	chr1:174572400-174573200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:174572400-174573200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr1:174572400-174573200	Strong transcription	Ovary	ovary
25	chr1:174572400-174573200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:174572400-174573400	Strong transcription	Fetal Stomach	stomach
27	chr1:174572400-174573400	ZNF genes & repeats	Pancreas	Pancrea
28	chr1:174572400-174573600	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr1:174572600-174573000	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr1:174572600-174573400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:174572600-174573400	ZNF genes & repeats	Lung	lung
32	chr1:174572600-174587800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:174572800-174573000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:174572800-174573400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:174572800-174574400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:174572800-174574400	Weak transcription	GM12878-XiMat	blood
37	chr1:174572800-174574800	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:174572800-174575000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:174572800-174606200	Weak transcription	Primary T cells fromperipheralblood	blood

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