Variant report

Variant	rs10518379
Chromosome Location	chr4:121759022-121759023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11726349	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11728387	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11733915	1.00[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11734461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11735169	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12499000	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12500166	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12504122	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12507359	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12507922	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12507924	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12507970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12508015	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12508048	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12508821	1.00[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12509870	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12509912	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12509939	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12509993	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1349347	0.83[CEU][hapmap]
rs1376099	0.83[CEU][hapmap]
rs1511303	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1511304	0.91[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1511305	0.88[CEU][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes]
rs1511307	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1511308	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1511309	0.83[CEU][hapmap]
rs1567551	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17051248	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17051250	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17051251	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051256	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051258	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051260	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051266	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1849078	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1912720	0.82[CEU][hapmap]
rs1949110	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1949111	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2100237	0.83[CEU][hapmap]
rs2122510	0.88[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2136997	0.80[CEU][hapmap]
rs2203059	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2203060	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2221813	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2221814	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2221815	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2597537	0.83[CEU][hapmap]
rs2597540	0.83[CEU][hapmap]
rs34151748	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs343181	0.83[CEU][hapmap]
rs343190	0.88[CEU][hapmap]
rs343192	0.83[CEU][hapmap]
rs3761721	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789141	0.86[CEU][hapmap]
rs3804162	0.83[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3804163	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3804164	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3804165	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3804166	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3804167	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804168	0.94[CEU][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3804169	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3804171	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3827583	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4336252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4833178	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4833179	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4833180	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4833181	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4833186	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833674	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4833675	0.82[CEU][hapmap]
rs4833676	0.83[CEU][hapmap]
rs4833677	0.83[CEU][hapmap]
rs4833680	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833684	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833686	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833687	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55901892	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56402218	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6534216	0.94[CEU][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6811794	0.88[CEU][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72921534	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72921590	0.80[AFR][1000 genomes]
rs729934	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7377202	0.87[AMR][1000 genomes];0.82[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	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:121730400-121760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:121730400-121760800	Weak transcription	Pancreas	Pancrea
4	chr4:121737600-121759800	Weak transcription	Lung	lung
5	chr4:121738200-121759600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:121743800-121765400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:121750400-121768400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:121751600-121762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:121751800-121759600	Weak transcription	Ovary	ovary
10	chr4:121753400-121762600	Weak transcription	Osteobl	bone
11	chr4:121754600-121760000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:121755600-121759600	Weak transcription	Fetal Stomach	stomach
13	chr4:121755800-121760000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:121755800-121774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:121756000-121760000	Weak transcription	Fetal Intestine Large	intestine
16	chr4:121756000-121762200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:121756000-121762200	Weak transcription	Fetal Lung	lung
18	chr4:121756200-121759800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:121756600-121763600	Weak transcription	Esophagus	oesophagus
20	chr4:121756800-121759600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:121756800-121760400	Weak transcription	Fetal Heart	heart
22	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
23	chr4:121757000-121759800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:121757200-121760200	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:121757200-121760800	Weak transcription	Left Ventricle	heart
26	chr4:121758000-121759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:121758200-121765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:121758200-121770400	Weak transcription	HSMM	muscle
29	chr4:121758200-121774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:121758400-121761800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:121758600-121760800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:121758800-121763000	Weak transcription	Colon Smooth Muscle	Colon

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