Variant report

Variant	rs2043799
Chromosome Location	chr1:76549727-76549728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1146660	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1146664	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1146665	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11585383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251464	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs1251465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1251577	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1251578	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1335740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55811448	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56320696	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61771321	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692547	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535776	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7545733	0.86[AMR][1000 genomes];0.92[ASN][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	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	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76541200-76551200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:76541600-76550000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:76542200-76553200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:76542400-76550000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:76542800-76572000	Weak transcription	Primary B cells from cord blood	blood
6	chr1:76545400-76551400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:76545600-76552200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:76545600-76558200	Weak transcription	Left Ventricle	heart
9	chr1:76545800-76550600	Enhancers	Fetal Lung	lung
10	chr1:76546200-76550600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:76547400-76552200	Weak transcription	Fetal Kidney	kidney
12	chr1:76547600-76550000	Weak transcription	Fetal Stomach	stomach
13	chr1:76548000-76561800	Weak transcription	Fetal Brain Female	brain
14	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:76548800-76550000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:76548800-76550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:76549000-76550000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:76549000-76550400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:76549000-76552400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:76549000-76556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:76549000-76556400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:76549200-76549800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:76549200-76550000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:76549200-76550200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:76549200-76550400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:76549200-76550400	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:76549200-76551000	Weak transcription	Stomach Mucosa	stomach
28	chr1:76549200-76552800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:76549200-76556600	Weak transcription	Brain Anterior Caudate	brain
30	chr1:76549200-76556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:76549400-76550600	Enhancers	Brain Hippocampus Middle	brain
32	chr1:76549400-76550800	Enhancers	Brain Substantia Nigra	brain
33	chr1:76549600-76550200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr1:76549600-76550200	Enhancers	Fetal Muscle Leg	muscle
35	chr1:76549600-76550200	Enhancers	Lung	lung

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