Variant report

Variant	rs482629
Chromosome Location	chr11:94160738-94160739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94147038..94148979-chr11:94159027..94161270,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1014666	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11020799	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1133572	0.84[AFR][1000 genomes]
rs1270146	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2508460	0.83[EUR][1000 genomes]
rs2508678	0.86[AFR][1000 genomes]
rs2508784	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2509321	0.80[EUR][1000 genomes]
rs2509943	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4593974	0.80[EUR][1000 genomes]
rs472344	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs473297	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs475531	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs476137	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs486556	0.86[EUR][1000 genomes]
rs489200	0.85[EUR][1000 genomes]
rs492001	0.81[EUR][1000 genomes]
rs493982	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs496190	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs496797	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs497763	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs498999	0.83[AFR][1000 genomes]
rs499952	0.83[AFR][1000 genomes]
rs500558	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs524350	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs536768	0.82[EUR][1000 genomes]
rs541472	0.86[AFR][1000 genomes]
rs544337	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs547207	0.82[EUR][1000 genomes]
rs553634	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs557148	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs569143	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs571044	0.83[EUR][1000 genomes]
rs582049	0.81[EUR][1000 genomes]
rs582077	0.82[EUR][1000 genomes]
rs610899	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612075	0.82[EUR][1000 genomes]
rs612632	0.82[EUR][1000 genomes]
rs614424	0.82[EUR][1000 genomes]
rs621562	0.89[EUR][1000 genomes]
rs622961	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628728	0.82[EUR][1000 genomes]
rs629119	0.81[EUR][1000 genomes]
rs629156	0.81[EUR][1000 genomes]
rs642744	0.81[EUR][1000 genomes]
rs6483341	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs659349	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs662572	0.87[EUR][1000 genomes]
rs682213	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs684507	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs693815	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs695093	0.83[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	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs482629	MRE11A	cis	Artery Tibial	GTEx
rs482629	MRE11A	cis	Stomach	GTEx
rs482629	MRE11A	cis	Heart Left Ventricle	GTEx
rs482629	RP11-685N10.1	cis	lung	GTEx
rs482629	RP11-685N10.1	cis	Artery Aorta	GTEx
rs482629	RP11-685N10.1	cis	Thyroid	GTEx
rs482629	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs482629	MRE11A	cis	Adipose Subcutaneous	GTEx
rs482629	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs482629	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs482629	MRE11A	cis	Esophagus Muscularis	GTEx
rs482629	MRE11A	cis	lung	GTEx
rs482629	MRE11A	cis	Nerve Tibial	GTEx
rs482629	RP11-685N10.1	cis	Stomach	GTEx
rs482629	RP11-685N10.1	cis	Artery Tibial	GTEx
rs482629	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs482629	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs482629	MRE11A	cis	Esophagus Mucosa	GTEx
rs482629	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs482629	MRE11A	cis	Thyroid	GTEx
rs482629	MRE11A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94135200-94161400	Weak transcription	Placenta	Placenta
2	chr11:94135200-94162200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:94138600-94162200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:94142400-94161200	Weak transcription	Brain Anterior Caudate	brain
5	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
6	chr11:94145000-94161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:94145400-94162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:94146400-94161200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:94146800-94160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:94146800-94161400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:94147200-94162200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:94147400-94161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:94147600-94161000	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:94147600-94162000	Weak transcription	HepG2	liver
15	chr11:94147800-94161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:94149000-94166600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:94149200-94161000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:94149600-94161600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:94149600-94169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:94150000-94161000	Weak transcription	Fetal Brain Male	brain
21	chr11:94150200-94162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:94150200-94167200	Weak transcription	NH-A	brain
23	chr11:94150600-94161600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:94151200-94161000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
27	chr11:94151800-94168400	Weak transcription	Pancreas	Pancrea
28	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:94152400-94162400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:94153000-94161400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:94153000-94167000	Weak transcription	K562	blood
32	chr11:94153200-94161200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:94153400-94161400	Weak transcription	Brain Substantia Nigra	brain
35	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:94154800-94163000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:94154800-94163400	Strong transcription	Adipose Nuclei	Adipose
38	chr11:94155000-94166200	Weak transcription	Small Intestine	intestine
39	chr11:94155000-94170200	Strong transcription	Primary T cells from cord blood	blood
40	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:94155400-94161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:94155600-94161200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:94155600-94161200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:94155600-94161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:94155600-94162000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:94155800-94166600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:94156000-94163400	Weak transcription	NHLF	lung
48	chr11:94156200-94161600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:94157000-94160800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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