Variant report

Variant	rs1874264
Chromosome Location	chr3:47277458-47277459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47276902..47279384-chr3:47323090..47325567,2	K562	blood:
2	chr3:47276373..47278773-chr3:47281395..47283848,2	K562	blood:
3	chr3:47276538..47278116-chr3:47285524..47288270,2	K562	blood:

Variant related genes	Relation type
ENSG00000114648	Chromatin interaction
ENSG00000088727	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs1024036	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1038393	1.00[EUR][1000 genomes]
rs10865945	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865947	1.00[EUR][1000 genomes]
rs1091068	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11130122	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11706212	1.00[EUR][1000 genomes]
rs11707272	1.00[EUR][1000 genomes]
rs11708257	1.00[EUR][1000 genomes]
rs11709693	1.00[EUR][1000 genomes]
rs11709876	1.00[EUR][1000 genomes]
rs11713537	1.00[EUR][1000 genomes]
rs11719129	0.80[AFR][1000 genomes]
rs11922925	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11928558	1.00[EUR][1000 genomes]
rs12330516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12487763	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12491254	0.89[AFR][1000 genomes]
rs12631697	1.00[EUR][1000 genomes]
rs13062185	1.00[EUR][1000 genomes]
rs13077134	1.00[EUR][1000 genomes]
rs13078181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13079174	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13079416	1.00[EUR][1000 genomes]
rs13082531	1.00[EUR][1000 genomes]
rs13084060	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13323092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473382	1.00[EUR][1000 genomes]
rs1531874	1.00[EUR][1000 genomes]
rs1814564	1.00[EUR][1000 genomes]
rs1869870	1.00[EUR][1000 genomes]
rs1872165	1.00[EUR][1000 genomes]
rs1979736	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2350642	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385868	1.00[EUR][1000 genomes]
rs28735306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295431	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295432	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	1.00[EUR][1000 genomes]
rs295443	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295444	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295445	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295448	1.00[EUR][1000 genomes]
rs295450	1.00[EUR][1000 genomes]
rs295451	1.00[EUR][1000 genomes]
rs295453	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295454	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295455	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	1.00[EUR][1000 genomes]
rs295459	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4018904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4282092	1.00[EUR][1000 genomes]
rs4324490	1.00[EUR][1000 genomes]
rs4378998	1.00[EUR][1000 genomes]
rs4389512	1.00[EUR][1000 genomes]
rs4450857	1.00[EUR][1000 genomes]
rs4478107	1.00[EUR][1000 genomes]
rs448018	1.00[EUR][1000 genomes]
rs4522803	1.00[EUR][1000 genomes]
rs4525902	1.00[EUR][1000 genomes]
rs4543047	1.00[EUR][1000 genomes]
rs4682828	1.00[EUR][1000 genomes]
rs4682832	1.00[EUR][1000 genomes]
rs4682833	1.00[EUR][1000 genomes]
rs4682834	1.00[EUR][1000 genomes]
rs4682835	1.00[EUR][1000 genomes]
rs4682836	1.00[EUR][1000 genomes]
rs4683277	1.00[EUR][1000 genomes]
rs4683279	1.00[EUR][1000 genomes]
rs4683283	1.00[EUR][1000 genomes]
rs4683284	1.00[EUR][1000 genomes]
rs4858812	1.00[EUR][1000 genomes]
rs4858823	1.00[EUR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs6442047	1.00[EUR][1000 genomes]
rs6442048	1.00[EUR][1000 genomes]
rs6442062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442063	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442066	1.00[EUR][1000 genomes]
rs6442068	1.00[EUR][1000 genomes]
rs6442069	1.00[EUR][1000 genomes]
rs648226	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772449	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6778673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780994	1.00[EUR][1000 genomes]
rs6783591	1.00[EUR][1000 genomes]
rs6785538	1.00[EUR][1000 genomes]
rs6787210	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6788978	1.00[EUR][1000 genomes]
rs6789730	1.00[EUR][1000 genomes]
rs6806521	1.00[EUR][1000 genomes]
rs6808117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6809904	1.00[EUR][1000 genomes]
rs7372780	1.00[EUR][1000 genomes]
rs73831482	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7624549	1.00[EUR][1000 genomes]
rs7630154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7630904	1.00[EUR][1000 genomes]
rs7638549	1.00[EUR][1000 genomes]
rs7639121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7643868	1.00[EUR][1000 genomes]
rs7644043	1.00[EUR][1000 genomes]
rs7644382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7646076	1.00[EUR][1000 genomes]
rs7649413	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807930	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs807933	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900688	1.00[EUR][1000 genomes]
rs900689	1.00[EUR][1000 genomes]
rs900690	1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	1.00[EUR][1000 genomes]
rs900694	1.00[EUR][1000 genomes]
rs903538	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs924009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936177	1.00[EUR][1000 genomes]
rs936178	1.00[EUR][1000 genomes]
rs936179	1.00[EUR][1000 genomes]
rs936180	1.00[EUR][1000 genomes]
rs936181	1.00[EUR][1000 genomes]
rs936185	1.00[EUR][1000 genomes]
rs936186	1.00[EUR][1000 genomes]
rs9812407	1.00[EUR][1000 genomes]
rs9819475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9826488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9827293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828124	1.00[EUR][1000 genomes]
rs9828473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9852167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861247	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9862711	1.00[EUR][1000 genomes]
rs9869489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9878813	1.00[EUR][1000 genomes]
rs9883152	1.00[EUR][1000 genomes]
rs9990284	1.00[EUR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1799921	chr3:47259253-47283105	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47262800-47287400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:47264200-47322200	Weak transcription	Gastric	stomach
3	chr3:47265800-47283800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:47267000-47280400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:47267200-47308000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:47267400-47281400	Weak transcription	Fetal Stomach	stomach
7	chr3:47267400-47284600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:47267400-47287200	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:47269800-47281000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:47269800-47281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:47269800-47288400	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:47270000-47277800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:47270000-47284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:47270200-47288600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:47270600-47286800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:47270800-47307800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:47271200-47281000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:47271400-47308000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:47272600-47288200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:47275800-47277600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:47276200-47283000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:47276400-47277600	ZNF genes & repeats	Lung	lung
23	chr3:47276400-47305200	Weak transcription	Brain Anterior Caudate	brain
24	chr3:47276600-47277600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:47276600-47283800	Weak transcription	Right Ventricle	heart
26	chr3:47276800-47281400	Weak transcription	Fetal Intestine Small	intestine
27	chr3:47276800-47284000	Weak transcription	HSMMtube	muscle
28	chr3:47276800-47284600	Weak transcription	Pancreas	Pancrea
29	chr3:47276800-47285200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:47276800-47285200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:47277000-47281400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:47277000-47288200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr3:47277000-47292000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:47277200-47281800	Weak transcription	HepG2	liver
35	chr3:47277400-47277600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:47277400-47284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:47277400-47285200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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