Variant report

Variant	rs2050663
Chromosome Location	chr6:79753394-79753395
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	chr6:79747179..79748938-chr6:79752638..79755087,2	K562	blood:
2	chr6:79752412..79754559-chr6:79755981..79758600,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1044309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10455356	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10943605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs10943608	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs10943613	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs10943616	0.90[CHB][hapmap]
rs11754419	0.85[AMR][1000 genomes]
rs13191068	0.85[AMR][1000 genomes]
rs1538233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1538235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1547731	1.00[CEU][hapmap]
rs1572584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs1572585	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs1890229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs1984195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs2050659	0.85[AMR][1000 genomes]
rs2050660	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes]
rs2050661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs2050662	0.85[AMR][1000 genomes]
rs2095724	0.85[AMR][1000 genomes]
rs2105143	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2152951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs2174739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs2174743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs3805747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3902856	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs4565265	0.85[AMR][1000 genomes]
rs4706079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs4706080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs4706743	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs4706747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs6915558	0.81[AMR][1000 genomes]
rs6940637	0.82[AMR][1000 genomes]
rs7742034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs7753531	0.90[CHD][hapmap];0.97[GIH][hapmap]
rs9341754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs9343844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs9343856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs9343860	0.82[AMR][1000 genomes]
rs9343861	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9343863	0.93[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs9350792	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs9350800	0.85[AMR][1000 genomes]
rs9352667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs9352669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9352670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs9352683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs9352686	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes]
rs9352691	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs9359354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs9359360	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs9359364	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs9361460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9361477	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9361480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs9361482	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9443621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs9443637	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs9443638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs9443645	0.81[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap]
rs9448584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs9448607	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs9448610	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv830705	chr6:79659297-79829530	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv518477	chr6:79700159-79850427	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2050663	IRAK1BP1	cis	Artery Aorta	GTEx
rs2050663	IRAK1BP1	cis	cerebellum	SCAN
rs2050663	IRAK1BP1	cis	Artery Tibial	GTEx
rs2050663	IRAK1BP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79687600-79775000	Strong transcription	Dnd41	blood
2	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:79707400-79755800	Weak transcription	Pancreas	Pancrea
4	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
6	chr6:79708800-79769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:79710800-79774600	Weak transcription	Psoas Muscle	Psoas
8	chr6:79717200-79765600	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:79724600-79765200	Weak transcription	Stomach Mucosa	stomach
10	chr6:79726000-79765800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:79726600-79766200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:79727000-79767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:79727600-79761800	Weak transcription	Fetal Brain Male	brain
14	chr6:79730000-79786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:79730600-79776600	Weak transcription	Aorta	Aorta
16	chr6:79732200-79774600	Weak transcription	Gastric	stomach
17	chr6:79732400-79756000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:79733000-79761800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:79733000-79765800	Weak transcription	Lung	lung
20	chr6:79733200-79761800	Weak transcription	Thymus	Thymus
21	chr6:79733600-79765200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:79733800-79759800	Weak transcription	HMEC	breast
23	chr6:79734000-79768000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:79734800-79758400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:79736000-79773600	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:79736200-79762000	Weak transcription	Brain Anterior Caudate	brain
27	chr6:79739000-79780000	Weak transcription	NHLF	lung
28	chr6:79739400-79769400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:79741000-79761800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:79742000-79785400	Weak transcription	HSMMtube	muscle
31	chr6:79742400-79760800	Weak transcription	NH-A	brain
32	chr6:79742400-79765200	Weak transcription	Small Intestine	intestine
33	chr6:79742600-79755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:79742600-79773800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:79743400-79759600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:79743400-79769600	Weak transcription	NHEK	skin
37	chr6:79743800-79755600	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:79744200-79756000	Strong transcription	Primary B cells from cord blood	blood
39	chr6:79744800-79755600	Weak transcription	Brain Substantia Nigra	brain
40	chr6:79745600-79756000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:79745600-79756800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:79745800-79761800	Weak transcription	Osteobl	bone
43	chr6:79746200-79756200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:79746200-79756800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:79746800-79755800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:79747000-79754400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:79747200-79760800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:79748200-79755800	Weak transcription	Fetal Intestine Small	intestine
49	chr6:79748200-79757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr6:79748200-79761800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links