Variant report

Variant	rs9884495
Chromosome Location	chr4:148419608-148419609
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10001478	1.00[AMR][1000 genomes]
rs10003944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10010949	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10011035	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10012917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10016209	1.00[AMR][1000 genomes]
rs10017079	1.00[EUR][1000 genomes]
rs10019230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10019644	1.00[EUR][1000 genomes]
rs10020557	1.00[EUR][1000 genomes]
rs10024734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10028666	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031628	1.00[EUR][1000 genomes]
rs10032638	1.00[EUR][1000 genomes]
rs10305849	1.00[AMR][1000 genomes]
rs10305881	1.00[AMR][1000 genomes]
rs10305883	1.00[AMR][1000 genomes]
rs10305926	1.00[EUR][1000 genomes]
rs1105266	1.00[EUR][1000 genomes]
rs11933787	1.00[EUR][1000 genomes]
rs11935436	1.00[EUR][1000 genomes]
rs11939191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940536	1.00[EUR][1000 genomes]
rs11943100	1.00[AMR][1000 genomes]
rs11943383	1.00[AMR][1000 genomes]
rs13435440	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1400557	1.00[AMR][1000 genomes]
rs1503863	1.00[EUR][1000 genomes]
rs1517135	1.00[EUR][1000 genomes]
rs16998721	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036499	1.00[EUR][1000 genomes]
rs2036502	1.00[EUR][1000 genomes]
rs2358096	1.00[EUR][1000 genomes]
rs2718451	1.00[EUR][1000 genomes]
rs28386186	1.00[AMR][1000 genomes]
rs28551143	1.00[EUR][1000 genomes]
rs28572568	1.00[AMR][1000 genomes]
rs28679567	1.00[AMR][1000 genomes]
rs28687346	1.00[AMR][1000 genomes]
rs28808633	1.00[AMR][1000 genomes]
rs28889981	1.00[AMR][1000 genomes]
rs58376196	1.00[EUR][1000 genomes]
rs6535551	1.00[EUR][1000 genomes]
rs6824884	1.00[EUR][1000 genomes]
rs6854158	1.00[EUR][1000 genomes]
rs7673515	1.00[EUR][1000 genomes]
rs7681275	1.00[EUR][1000 genomes]
rs9308219	1.00[EUR][1000 genomes]
rs9308220	1.00[EUR][1000 genomes]
rs9308221	1.00[EUR][1000 genomes]
rs931779	1.00[EUR][1000 genomes]
rs955558	1.00[AMR][1000 genomes]
rs9884319	1.00[EUR][1000 genomes]
rs9993718	1.00[AMR][1000 genomes]
rs9993720	1.00[AMR][1000 genomes]
rs9997823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9999853	1.00[EUR][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	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised 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 miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:148414200-148430400	Weak transcription	Aorta	Aorta
2	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
3	chr4:148416400-148434000	Weak transcription	Left Ventricle	heart
4	chr4:148416800-148430400	Weak transcription	Ovary	ovary
5	chr4:148417000-148433200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:148418200-148422000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:148418800-148420200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:148418800-148420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:148419000-148420000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:148419000-148420000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:148419000-148420000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:148419000-148420000	Enhancers	HUVEC	blood vessel
13	chr4:148419000-148420000	Enhancers	NHDF-Ad	bronchial
14	chr4:148419000-148420000	Enhancers	Osteobl	bone
15	chr4:148419000-148420200	Enhancers	HMEC	breast
16	chr4:148419000-148420200	Enhancers	NH-A	brain
17	chr4:148419000-148420200	Enhancers	NHEK	skin
18	chr4:148419000-148420200	Enhancers	NHLF	lung
19	chr4:148419200-148419800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:148419200-148420000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:148419200-148420000	Enhancers	HSMM	muscle
22	chr4:148419200-148420400	Enhancers	Fetal Heart	heart
23	chr4:148419400-148419800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:148419400-148419800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr4:148419400-148420000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:148419400-148420000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:148419400-148420000	Enhancers	Fetal Lung	lung
28	chr4:148419400-148420000	Enhancers	Fetal Muscle Leg	muscle
29	chr4:148419400-148420000	Enhancers	Stomach Smooth Muscle	stomach
30	chr4:148419400-148420000	Enhancers	HSMMtube	muscle
31	chr4:148419400-148420200	Enhancers	Hela-S3	cervix
32	chr4:148419400-148420400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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