Variant report

Variant	rs11632222
Chromosome Location	chr15:76712927-76712928
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11072591	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11072597	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072598	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11629888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11634019	0.85[AMR][1000 genomes]
rs11635463	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11637490	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11638767	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11855999	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11857015	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11857327	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12591100	0.91[ASN][1000 genomes]
rs12900179	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12903874	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12906143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157783	0.83[ASN][1000 genomes]
rs1607015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2003344	0.84[AMR][1000 genomes]
rs2048856	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs206205	0.88[ASN][1000 genomes]
rs2280306	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436994	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436996	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2454450	0.85[EUR][1000 genomes]
rs2459361	0.84[EUR][1000 genomes]
rs2461872	0.81[AMR][1000 genomes]
rs2468130	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2468131	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2469249	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs283789	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283793	0.90[ASN][1000 genomes]
rs283795	0.82[ASN][1000 genomes]
rs284891	0.90[ASN][1000 genomes]
rs284892	0.89[ASN][1000 genomes]
rs284899	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284909	0.88[ASN][1000 genomes]
rs2944378	0.90[ASN][1000 genomes]
rs2957614	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3765115	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs437131	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886493	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886495	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886795	0.82[AMR][1000 genomes]
rs4886798	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886800	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886805	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56246286	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57682236	0.83[AFR][1000 genomes]
rs62028380	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62028406	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62028423	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62028434	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71405204	0.86[AMR][1000 genomes]
rs744336	0.83[ASN][1000 genomes]
rs908817	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11632222	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs11632222	SCAPER	cis	Artery Tibial	GTEx
rs11632222	SCAPER	cis	lung	GTEx
rs11632222	SCAPER	cis	Nerve Tibial	GTEx
rs11632222	SCAPER	cis	Esophagus Mucosa	GTEx
rs11632222	SCAPER	cis	Muscle Skeletal	GTEx
rs11632222	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs11632222	SCAPER	cis	Esophagus Muscularis	GTEx
rs11632222	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs11632222	SCAPER	cis	Whole Blood	GTEx
rs11632222	SCAPER	cis	Adipose Subcutaneous	GTEx
rs11632222	SCAPER	cis	Thyroid	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76639800-76727400	Weak transcription	Right Ventricle	heart
2	chr15:76673200-76727400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:76674600-76718400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:76682600-76713800	Weak transcription	Fetal Intestine Small	intestine
5	chr15:76684800-76718200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:76693600-76720400	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:76695800-76726000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:76696600-76720600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:76697000-76718400	Weak transcription	Ovary	ovary
10	chr15:76697000-76719200	Weak transcription	Primary T cells from cord blood	blood
11	chr15:76697000-76720800	Weak transcription	Aorta	Aorta
12	chr15:76697000-76722200	Weak transcription	Spleen	Spleen
13	chr15:76697000-76723400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:76697000-76724000	Weak transcription	Brain Substantia Nigra	brain
15	chr15:76697000-76724400	Weak transcription	Pancreas	Pancrea
16	chr15:76697000-76726000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:76697000-76726400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:76697200-76720400	Weak transcription	Liver	Liver
19	chr15:76711200-76720800	Weak transcription	Left Ventricle	heart
20	chr15:76711600-76721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:76711600-76728400	Weak transcription	Placenta	Placenta
22	chr15:76711600-76767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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