Variant report

Variant	rs12503377
Chromosome Location	chr4:127810892-127810893
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127806872..127808434-chr4:127810720..127812309,2	K562	blood:
2	chr4:127810077..127811688-chr4:127883020..127885703,2	K562	blood:
3	chr4:127809656..127812090-chr4:127818382..127821149,2	K562	blood:
4	chr4:127806872..127808749-chr4:127810720..127812477,2	K562	blood:
5	chr4:127809921..127811534-chr4:127814777..127816891,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10000064	0.81[ASN][1000 genomes]
rs10446736	0.83[EUR][1000 genomes]
rs11098902	0.97[ASN][1000 genomes]
rs11098905	0.87[AMR][1000 genomes]
rs11721464	0.85[AMR][1000 genomes]
rs11723829	0.83[AMR][1000 genomes]
rs11724587	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11724702	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11731527	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11732835	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11736547	0.83[AMR][1000 genomes]
rs11942125	0.92[AMR][1000 genomes]
rs12498197	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12504419	0.89[AMR][1000 genomes]
rs12511029	0.84[AMR][1000 genomes]
rs12512914	0.89[AMR][1000 genomes]
rs13101381	0.84[AMR][1000 genomes]
rs13104202	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13107479	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13110529	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13111315	0.80[AMR][1000 genomes]
rs13114288	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13114331	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13115066	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13121117	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13124612	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13125496	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13129761	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13131302	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13135503	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13138236	0.84[AMR][1000 genomes]
rs13139253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13141430	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13141720	0.84[AMR][1000 genomes]
rs13148797	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13149848	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13151401	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1472702	0.82[EUR][1000 genomes]
rs1503627	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1503632	0.83[EUR][1000 genomes]
rs1503634	0.83[EUR][1000 genomes]
rs1510665	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510668	0.83[ASN][1000 genomes]
rs1510669	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1510672	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1510675	0.81[ASN][1000 genomes]
rs1588463	0.97[ASN][1000 genomes]
rs1604721	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1604722	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16997944	0.83[EUR][1000 genomes]
rs17011777	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011779	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011876	0.81[AMR][1000 genomes]
rs1877066	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1877067	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1877072	0.81[AMR][1000 genomes]
rs1912521	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1995903	0.83[ASN][1000 genomes]
rs1995906	0.84[AMR][1000 genomes]
rs1995907	0.80[AMR][1000 genomes]
rs2048379	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2134643	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2221774	0.81[ASN][1000 genomes]
rs2391097	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34597806	0.90[AMR][1000 genomes]
rs4270599	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4303993	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4365742	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4397007	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4492022	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4554089	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4599427	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4639084	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4833357	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4833358	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4833360	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4833362	0.84[AMR][1000 genomes]
rs4834148	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4834151	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4834152	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834153	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4834154	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4834155	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4834156	0.89[AMR][1000 genomes]
rs56021645	0.85[AMR][1000 genomes]
rs6815811	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6821148	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6822430	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6824020	0.84[ASN][1000 genomes]
rs6824257	0.84[ASN][1000 genomes]
rs6831218	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6832255	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6837327	0.81[ASN][1000 genomes]
rs6844304	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6848070	0.84[AMR][1000 genomes]
rs6848548	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6856247	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs71633717	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7439947	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7655752	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7656539	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7674389	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7677910	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678163	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7679139	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7698395	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9942226	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127794000-127812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127803200-127815600	Weak transcription	K562	blood
3	chr4:127808600-127812000	Weak transcription	NHLF	lung
4	chr4:127809400-127811000	Enhancers	NHDF-Ad	bronchial
5	chr4:127809800-127812400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:127810000-127812000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:127810000-127812000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:127810600-127811000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:127810800-127812200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:127810800-127812200	Weak transcription	Osteobl	bone

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