Variant report

Variant	rs12506058
Chromosome Location	chr4:149283517-149283518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10434100	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10434128	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10434129	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10434130	0.97[ASN][1000 genomes]
rs10519963	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11099692	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11931777	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510074	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1512335	0.96[ASN][1000 genomes]
rs16998733	0.85[EUR][1000 genomes]
rs17024681	0.84[EUR][1000 genomes]
rs17484783	0.92[EUR][1000 genomes]
rs17484839	0.84[EUR][1000 genomes]
rs17484873	0.84[EUR][1000 genomes]
rs17485033	0.83[EUR][1000 genomes]
rs17582031	0.83[EUR][1000 genomes]
rs2048546	0.85[EUR][1000 genomes]
rs2063553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2137330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34296798	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4835513	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56721167	0.84[EUR][1000 genomes]
rs59941204	0.84[EUR][1000 genomes]
rs61569758	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61756947	0.84[EUR][1000 genomes]
rs61758341	0.83[EUR][1000 genomes]
rs61758351	0.83[EUR][1000 genomes]
rs61763850	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61764769	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66584597	0.83[EUR][1000 genomes]
rs6829009	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6834935	0.84[EUR][1000 genomes]
rs6840422	0.83[EUR][1000 genomes]
rs72728499	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72729936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72729950	0.84[EUR][1000 genomes]
rs72729990	0.84[EUR][1000 genomes]
rs72729992	0.84[EUR][1000 genomes]
rs72732304	0.83[EUR][1000 genomes]
rs72732308	0.83[EUR][1000 genomes]
rs72732311	0.83[EUR][1000 genomes]
rs72953910	0.84[EUR][1000 genomes]
rs7682972	0.85[EUR][1000 genomes]
rs7686433	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7698307	0.83[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	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1028105	chr4:149199913-149284620	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv537297	chr4:149199913-149284620	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3584816	chr4:149254670-149293317	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149268200-149288000	Weak transcription	Small Intestine	intestine
2	chr4:149277000-149291000	Weak transcription	Left Ventricle	heart
3	chr4:149277000-149296800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
5	chr4:149277200-149283800	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:149281200-149300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:149281400-149290800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:149282200-149287800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:149282200-149289000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr4:149282200-149289000	Weak transcription	Gastric	stomach
11	chr4:149282400-149287800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:149282800-149284000	Weak transcription	Right Ventricle	heart
13	chr4:149282800-149287800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:149282800-149289200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:149282800-149296800	Weak transcription	Psoas Muscle	Psoas
16	chr4:149283000-149287800	Weak transcription	Fetal Heart	heart
17	chr4:149283000-149289000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:149283000-149299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:149283200-149293400	Weak transcription	Right Atrium	heart

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