Variant report

Variant	rs4133251
Chromosome Location	chr8:121166993-121166994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10086829	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10087151	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10096465	1.00[YRI][hapmap]
rs10104973	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10110722	0.87[EUR][1000 genomes]
rs10808507	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955954	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774123	1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12543460	0.88[EUR][1000 genomes]
rs12548223	1.00[YRI][hapmap]
rs12678023	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1519814	1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4271006	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4369033	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4504680	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4588897	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4601361	0.88[EUR][1000 genomes]
rs4871036	0.83[EUR][1000 genomes]
rs4871037	1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871040	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871041	1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469900	1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6469901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469902	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983133	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992410	1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6995843	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7000103	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7000609	1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7016388	0.84[EUR][1000 genomes]
rs7818027	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826920	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7827008	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:121154600-121173800	Weak transcription	Fetal Stomach	stomach
2	chr8:121154600-121175200	Weak transcription	Aorta	Aorta
3	chr8:121155400-121170600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:121159600-121186200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121162400-121173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:121165400-121167800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:121165600-121174600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:121165600-121176800	Weak transcription	Psoas Muscle	Psoas
9	chr8:121166400-121177000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:121166400-121177600	Weak transcription	Placenta	Placenta
11	chr8:121166600-121167000	Enhancers	Fetal Intestine Large	intestine
12	chr8:121166600-121167000	Flanking Active TSS	Fetal Lung	lung
13	chr8:121166600-121167200	Enhancers	Right Atrium	heart
14	chr8:121166800-121167000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:121166800-121167000	Enhancers	Fetal Intestine Small	intestine
16	chr8:121166800-121167200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:121166800-121168400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:121166800-121176000	Weak transcription	Ovary	ovary
19	chr8:121166800-121176800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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