Variant report

Variant	rs2163840
Chromosome Location	chr19:40800881-40800882
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10408356	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10415181	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10416620	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10418932	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419465	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420842	0.86[ASN][1000 genomes]
rs10422343	0.84[ASN][1000 genomes]
rs10423896	0.88[ASN][1000 genomes]
rs16974157	0.92[ASN][1000 genomes]
rs2304188	0.93[ASN][1000 genomes]
rs28362958	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28667591	0.84[ASN][1000 genomes]
rs34716810	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862427	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57885763	0.84[ASN][1000 genomes]
rs58336440	0.92[ASN][1000 genomes]
rs58613082	0.86[ASN][1000 genomes]
rs59010363	0.92[ASN][1000 genomes]
rs59343080	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60869669	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61685259	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62107590	0.92[ASN][1000 genomes]
rs62107593	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107594	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107630	0.84[ASN][1000 genomes]
rs62107631	0.84[ASN][1000 genomes]
rs7247916	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7248861	0.88[ASN][1000 genomes]
rs7254617	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044533	0.88[ASN][1000 genomes]
rs8100207	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8111619	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112998	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs892118	0.92[ASN][1000 genomes]
rs892119	0.97[ASN][1000 genomes]
rs892120	0.97[ASN][1000 genomes]
rs9304588	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304589	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934426	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3386713	chr19:40794161-40828617	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 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	chr19:40792000-40802600	Weak transcription	Fetal Brain Female	brain
2	chr19:40792000-40807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:40792000-40811400	Weak transcription	Brain Anterior Caudate	brain
4	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
5	chr19:40792200-40807600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:40792200-40810200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:40792200-40821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:40792200-40821400	Weak transcription	Fetal Intestine Small	intestine
9	chr19:40792400-40802200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr19:40793000-40805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:40793000-40810200	Weak transcription	Adipose Nuclei	Adipose
12	chr19:40793000-40821400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:40793000-40822000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:40793200-40820600	Weak transcription	HSMM	muscle
15	chr19:40793200-40820800	Weak transcription	Dnd41	blood
16	chr19:40793200-40822000	Weak transcription	Fetal Stomach	stomach
17	chr19:40793800-40821800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:40799000-40801200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:40800000-40801000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr19:40800000-40801000	Enhancers	Brain Substantia Nigra	brain
21	chr19:40800200-40801000	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:40800400-40801000	Enhancers	HepG2	liver
23	chr19:40800400-40826400	Weak transcription	Brain Angular Gyrus	brain
24	chr19:40800800-40822000	Weak transcription	Brain Hippocampus Middle	brain

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