Variant report

Variant	rs1146664
Chromosome Location	chr1:76553710-76553711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1144345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1146660	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1146665	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11585383	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1251464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1251576	0.82[AFR][1000 genomes]
rs1251577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1251578	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1335740	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17660501	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17660531	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2043799	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs55811448	0.93[EUR][1000 genomes]
rs61771321	0.95[EUR][1000 genomes]
rs6683884	0.84[ASN][1000 genomes]
rs6692547	1.00[CEU][hapmap];0.88[EUR][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76542800-76572000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76545600-76558200	Weak transcription	Left Ventricle	heart
3	chr1:76548000-76561800	Weak transcription	Fetal Brain Female	brain
4	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76549000-76556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:76549000-76556400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:76549200-76556600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:76549200-76556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:76550000-76556600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:76550200-76556800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:76551200-76556200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:76551400-76554000	Enhancers	Fetal Lung	lung
13	chr1:76551400-76556000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:76551400-76556000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:76551600-76554400	Enhancers	Stomach Mucosa	stomach
16	chr1:76552000-76553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:76552200-76554200	Enhancers	Fetal Intestine Small	intestine
18	chr1:76552600-76556400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:76552800-76554200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:76553000-76556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:76553000-76556400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:76553200-76554400	Enhancers	Fetal Intestine Large	intestine
23	chr1:76553400-76553800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:76553600-76553800	Enhancers	Fetal Kidney	kidney

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