Variant report

Variant	rs17114036
Chromosome Location	chr1:56962821-56962822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17114046	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2404715	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs4634932	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs55694910	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55869368	0.91[EUR][1000 genomes]
rs56170783	0.88[EUR][1000 genomes]
rs56186267	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56322312	0.95[EUR][1000 genomes]
rs56348932	0.93[EUR][1000 genomes]
rs72664303	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664304	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664318	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664324	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72664332	0.93[EUR][1000 genomes]
rs72664335	0.93[EUR][1000 genomes]
rs72664341	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72664353	0.88[EUR][1000 genomes]
rs72664354	0.88[EUR][1000 genomes]
rs72664355	0.88[EUR][1000 genomes]
rs9970807	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

Variant related diseases (count:4)

Disease	PMID	Source
Coronary artery disease	24262325	GWAS catalog
Coronary heart disease	21378990	GWAS catalog
Coronary artery disease or ischemic stroke	24262325	GWAS catalog
Coronary artery disease or large artery stroke	24262325	GWAS catalog

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56948800-56965200	Weak transcription	Brain Angular Gyrus	brain
2	chr1:56957400-56963800	Genic enhancers	NHDF-Ad	bronchial
3	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:56957800-56963800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:56957800-56963800	Weak transcription	Small Intestine	intestine
7	chr1:56957800-56971800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
9	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:56958200-56963000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:56958200-56963400	Strong transcription	Fetal Muscle Leg	muscle
13	chr1:56958200-56971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:56958400-56968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:56958600-56968000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:56958800-56964000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:56958800-56971600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:56959000-56966200	Strong transcription	HSMM	muscle
19	chr1:56959200-56968000	Strong transcription	Osteobl	bone
20	chr1:56959200-56968400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:56959200-56969000	Genic enhancers	Liver	Liver
22	chr1:56959400-56963200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:56959400-56972000	Strong transcription	Fetal Stomach	stomach
24	chr1:56959600-56963400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:56959600-56963600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr1:56959600-56967200	Weak transcription	Fetal Brain Male	brain
27	chr1:56959800-56963600	Strong transcription	NHLF	lung
28	chr1:56959800-56972800	Weak transcription	Dnd41	blood
29	chr1:56960000-56964200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:56960400-56967200	Weak transcription	K562	blood
31	chr1:56960800-56963000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:56960800-56976000	Genic enhancers	HepG2	liver
33	chr1:56961000-56963000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:56961000-56963000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr1:56961000-56963600	Strong transcription	Thymus	Thymus
36	chr1:56961000-56964200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:56961200-56963000	Strong transcription	A549	lung
38	chr1:56961200-56963600	Strong transcription	Fetal Intestine Large	intestine
39	chr1:56961200-56963800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:56961200-56964200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:56961200-56967600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:56961400-56963000	Weak transcription	Psoas Muscle	Psoas
43	chr1:56961400-56963600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:56961400-56971400	Weak transcription	Primary B cells from cord blood	blood
45	chr1:56961400-56972600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:56961400-56972800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:56961600-56963000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:56961600-56963600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:56961600-56963600	Enhancers	HUVEC	blood vessel
50	chr1:56961600-56964000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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