Variant report

Variant	rs57292049
Chromosome Location	chr6:149459805-149459806
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149459494..149462226-chr6:149474198..149476247,2	K562	blood:
2	chr6:149452280..149455428-chr6:149458542..149462690,3	MCF-7	breast:
3	chr6:149449471..149451391-chr6:149458352..149459927,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11155625	0.98[EUR][1000 genomes]
rs11756915	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12191264	0.98[EUR][1000 genomes]
rs12191441	0.98[EUR][1000 genomes]
rs12196468	0.98[EUR][1000 genomes]
rs12196841	0.98[EUR][1000 genomes]
rs12197043	0.98[EUR][1000 genomes]
rs12198786	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12200486	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12210293	0.98[EUR][1000 genomes]
rs12210437	0.98[EUR][1000 genomes]
rs12210478	0.97[EUR][1000 genomes]
rs12212173	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12212622	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12216302	0.98[EUR][1000 genomes]
rs2069314	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28641142	0.98[EUR][1000 genomes]
rs35372633	0.98[EUR][1000 genomes]
rs35426452	0.98[EUR][1000 genomes]
rs3934770	0.98[EUR][1000 genomes]
rs3935038	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243485	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243486	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4283906	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4355632	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4385337	0.98[EUR][1000 genomes]
rs4415179	0.94[EUR][1000 genomes]
rs4495293	0.98[EUR][1000 genomes]
rs4544932	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4624897	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4895779	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4897081	0.92[EUR][1000 genomes]
rs4897082	0.94[EUR][1000 genomes]
rs4897083	0.94[EUR][1000 genomes]
rs4897084	0.94[EUR][1000 genomes]
rs4897087	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5013008	0.98[EUR][1000 genomes]
rs55794530	0.98[EUR][1000 genomes]
rs55855829	0.97[EUR][1000 genomes]
rs55953746	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55991942	0.98[EUR][1000 genomes]
rs56260426	0.98[EUR][1000 genomes]
rs56328446	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56396328	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56883363	0.96[EUR][1000 genomes]
rs56924759	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57478974	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57596511	0.97[EUR][1000 genomes]
rs57937779	0.97[EUR][1000 genomes]
rs58571272	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61228112	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61462811	0.98[EUR][1000 genomes]
rs61660880	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62425896	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6570942	0.92[EUR][1000 genomes]
rs6570943	0.92[EUR][1000 genomes]
rs6909824	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6934263	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7741894	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7743161	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7749723	0.82[EUR][1000 genomes]
rs7749728	0.83[EUR][1000 genomes]
rs7767040	0.90[EUR][1000 genomes]
rs9377192	0.98[EUR][1000 genomes]
rs9386246	0.98[EUR][1000 genomes]
rs9390658	0.97[EUR][1000 genomes]
rs9688704	0.97[EUR][1000 genomes]
rs9766171	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1034080	chr6:149456387-149480990	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3329187	chr6:149459410-149459857	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149450000-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149450200-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:149456800-149461200	Weak transcription	Fetal Lung	lung
4	chr6:149458000-149461200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:149458000-149461400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:149458600-149461000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:149458800-149460800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:149459000-149461000	Enhancers	K562	blood
9	chr6:149459000-149461400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:149459000-149461400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr6:149459000-149462000	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:149459200-149460200	Enhancers	Esophagus	oesophagus
13	chr6:149459200-149460200	Enhancers	Fetal Muscle Trunk	muscle
14	chr6:149459200-149461000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:149459200-149461000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:149459200-149461200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:149459200-149461400	Enhancers	Dnd41	blood
18	chr6:149459400-149461000	Enhancers	GM12878-XiMat	blood
19	chr6:149459400-149461200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:149459400-149461200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:149459400-149461200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr6:149459400-149461600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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